Gene References

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ACOX1 (acyl-CoA oxidase 1, palmitoyl)

Carrozzo R, Bellini C, Lucioli S et al. Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Am J Med Genet A 2008; 146:1676-81.

Clayton PT. Clinical consequences of defects in peroxisomal beta-oxidation. Biochem Soc Trans 2001; 29:298-305.

Ferdinandusse S, Denis S, Hogenhout EM et al. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat 2007; 28:904-12.

Fournier B, Saudubray JM, Benichou B et al. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. J Clin Invest 1994; 94:526-31.

Lee JS, Chu IS, Mikaelyan A et al. Application of comparative functional genomics to identify best-fit mouse models to study human cancer. Nat Genet 2004; 36:1306-11.

Oaxaca-Castillo D, Andreoletti P, Vluggens A et al. Biochemical characterization of two functional human liver acyl-CoA oxidase isoforms 1a and 1b encoded by a single gene. Biochem Biophys Res Commun 2007; 360:314-9.

Roglans N, Bellido A, Rodríguez C et al. Fibrate treatment does not modify the expression of acyl coenzyme A oxidase in human liver. Clin Pharmacol Ther 2002; 72:692-701.

Schutgens RB, Wanders RJ, Nijenhuis A et al. Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies. Enzyme 1987; 38:161-76.

Shimoda H, Tanaka J, Kikuchi M et al. Effect of polyphenol-rich extract from Walnut on diet-induced hypertriglyceridemia in mice via enhancement of fatty acid oxidation in the Liver. J Agric Food Chem 2009; 57:1786-1792.

ACSL1 (acyl-CoA synthetase long-chain family member 1)

Li LO, Ellis JM, Paich HA et al. Liver-specific loss of long chain acyl-CoA synthetase-1 decreases triacylglycerol synthesis and beta-oxidation and alters phospholipid fatty acid composition. J Biol Chem 2009; 284:27816-26.

Phillips CM, Goumidi L, Bertrais S et al. Gene-nutrient interactions with dietary fat modulate the association between genetic variation of the ACSL1 gene and metabolic syndrome. J Lipid Res 2010; 51:1793-800.

ACSL3 (acyl-CoA synthetase long-chain family member 3)

Durgan DJ, Smith JK, Hotze MA et al. Distinct transcriptional regulation of long-chain acyl-CoA synthetase isoforms and cytosolic thioesterase 1 in the rodent heart by fatty acids and insulin. Am J Physiol Heart Circ Physiol 2006; 290:2480-97.

Perera F, Tang WY, Herbstman J et al. Relation of DNA methylation of 5’-CpG island of ACSL3 to transplacental exposure to airborne polycyclic aromatic hydrocarbons and childhood asthma. PLoS One 2009. doi:10. 1371/annotation/6a678269-9623-4a13-8b19-4e9431ff3cb6.

Reppe S, Refvem H, Gautvik VT et al. Eight genes are highly associated with BMD variation in postmenopausal Caucasian women. Bone 2010; 46:604-12.

Zhou Y, Abidi P, Kim A et al. Transcriptional activation of hepatic ACSL3 and ACSL5 by oncostatin m reduces hypertriglyceridemia through enhanced beta-oxidation. Arterioscler Thromb Vasc Biol 2007; 27:2198-205.

ACSL4 (acyl-CoA synthetase long-chain family member 4)

Longo I, Frints SG, Fryns JP et al. A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. J Med Genet 2003; 40:11-7.

Meloni I, Muscettola M, Raynaud M et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet 2002; 30:436-40.

Meloni I, Vitelli F, Pucci L et al. Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22. 3 (ATS-MR). J Med Genet 2002; 39:359-65.

Raynaud M, Moizard MP, Dessay B et al. Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families. Eur J Hum Genet 2000; 8:253-8.

Vitelli F, Piccini M, Caroli F et al. Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Genomics 1999; 55:335-40.

ACSL5 (acyl-CoA synthetase long-chain family member 5)

Adamo KB, Dent R, Langefeld CD et al. Peroxisome proliferator-activated receptor gamma 2 and acyl-CoA synthetase 5 polymorphisms influence diet response. Obesity 2007; 15:1068-75.

Gassler N, Herr I, Schneider A et al. Impaired expression of acyl-CoA synthetase 5 in sporadic colorectal adenocarcinomas. J Pathol 2005; 207:295-300.

Mashima T, Sato S, Okabe S et al. Acyl-CoA synthetase as a cancer survival factor: its inhibition enhances the efficacy of etoposide. Cancer Sci 2009; 100:1556-62.

Mashima T, Sato S, Sugimoto Y, Tsuruo T, Seimiya H. Promotion of glioma cell survival by acyl-CoA synthetase 5 under extracellular acidosis conditions. Oncogene 2009; 28:9-19.

Nagarajan RP, Costello JF. Molecular epigenetics and genetics in neuro-oncology. Neurotherapeutics 2009; 6:436-46.

Teng AC, Adamo K, Tesson F, Stewart AF. Functional characterization of a promoter polymorphism that drives ACSL5 gene expression in skeletal muscle and associates with diet-induced weight loss. FASEB J 2009; 23:1705-9.

Yamashita Y, Kumabe T, Cho YY et al. Fatty acid induced glioma cell growth is mediated by the acyl-CoA synthetase 5 gene located on chromosome 10q25. 1-q25. 2, a region frequently deleted in malignant gliomas. Oncogene 2000; 19:5919-25.

ACSL6 (Acyl-CoA synthetase long-chain family member 6)

Chen X, Wang X, Hossain S et al. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. Hum Mol Genet 2006; 15:3329-42.

Chowdari KV, Northup A, Pless L et al. DNA pooling: a comprehensive, multi-stage association analysis of ACSL6 and SIRT5 polymorphisms in schizophrenia. Genes Brain Behav 2007; 6:229-39.

Luo XJ, Diao HB, Wang JK, Zhang H, Zhao ZM, Su B. Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. J Med Genet 2008; 45:818-26.

Soupene E, Kuypers FA. Multiple erythroid isoforms of human long-chain acyl-CoA synthetases are produced by switch of the fatty acid gate domains. BMC Mol Biol 2006; 7:21.

Yagasaki F, Jinnai I, Yoshida S et al. Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5; 12)(q31; p13). Genes Chromosomes Cancer 1999; 26:192-202.

ACVRL1 (activin A receptor type II-like 1)

Brakensiek K, Frye-Boukhriss H, Mälzer M et al. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clin Genet 2008; 74:171-7.

Hao Q, Su H, Marchuk DA et al. Increased tissue perfusion promotes capillary dysplasia in the ALK1-deficient mouse brain following VEGF stimulation. Am J Physiol Heart Circ Physiol 2008; 295:2250-6.

Johnson DW, Berg JN, Baldwin MA et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996; 13:189-95.

Kim H, Marchuk DA, Pawlikowska L et al. Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations. Acta Neurochir Suppl 2008; 105:199-206.

Sadick H, Hage J, Goessler U et al. Mutation analysis of “Endoglin” and “Activin receptor-like kinase” genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique. BMC Med Genet 2009; 10:53.

Simon M, Franke D, Ludwig M et al. Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. J Neurosurg 2006; 104:945-9.

Srinivasan S, Hanes MA, Dickens T et al. A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet 2003; 12:473-82.

Wilkins MR, Møller GM, Ren X, Wharton J. Developments in therapeutics for pulmonary arterial hypertension. Minerva Cardioangiol 2002; 50:175-87.

ADA (adenosine deaminase)

Bottini N, de Luca D, Saccucci P et al. Autism: evidence of association with adenosine deaminase genetic polymorphism. Neurogenetics 2001; 3:111-3.

Fernández P, Trzaska S, Wilder T et al. Pharmacological blockade of A2A receptors prevents dermal fibrosis in a model of elevated tissue adenosine. Am J Pathol 2008; 172:1675-82.

Gloria-Bottini F, Magrini A, Cozzoli E, Bergamaschi A, Bottini E. ADA genetic polymorphism and the effect of smoking on neonatal bilirubinemia and developmental parameters. Early Hum Dev 2008; 84:739-43.

Gloria-Bottini F, Ronchetti F, Ammendola L, Bottini N. Adenosine deaminase polymorphism and the relationship of total immunoglobulin E with skin prick test: a study on school children. Allergy Asthma Proc 2006; 27:115-8.

Hershfield MS. New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency. Eur J Immunol 2005; 35:25-30.

Hettinger JA, Liu X, Holden JJ. The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders. J Autism Dev Disord 2008; 38:14-9.

Kisor DF. Nelarabine: a nucleoside analog with efficacy in T-cell and other leukemias. Ann Pharmacother 2005; 39:1056-63.

Liu Y, Saccucci P, Qi H et al. ADA polymorphisms and asthma: a study in the Chinese Han population. J Asthma 2006; 43:203-6.

Maddocks JL, Al-Safi SA. Lack of inhibition of purine nucleoside phosphorylase and adenosine deaminase in patients treated with azathioprine. Br J Clin Pharmacol 1985; 19:108-11.

Mohsenin A, Burdick MD, Molina JG, Keane MP, Blackburn MR. Enhanced CXCL1 production and angiogenesis in adenosine-mediated lung disease. FASEB J 2007; 21:1026-36.

Moriwaki Y, Yamamoto T, Higashino K. Enzymes involved in purine metabolism a review of histochemical localization and functional implications. Histol Histopathol 1999; 14:1321-40.

Napolioni V, Lucarini N. Gender-specific association of ADA genetic polymorphism with human longevity. Biogerontology 2010; 11:457-62.

Napolioni V, Predazzi IM. Age- and gender-specific association between ADA (22G>A) and TNF-alpha (-308G>A) genetic polymorphisms. Tissue Antigens 2010; 76:311-4.

Persico AM, Militerni R, Bravaccio C et al. Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies. Am J Med Genet 2000; 96:784-90.

Pieters R, Huismans DR, Loonen AH et al. Adenosine deaminase and purine nucleoside phosphorylase in childhood lymphoblastic leukemia: relation with differentiation stage, in vitro drug resistance and clinical prognosis. Leukemia 1992; 6:375-80.

Roecker AM, Allison JC, Kisor DF. Nelarabine: efficacy in the treatment of clinical malignancies. Future Oncol 2006; 2:441-8.

Saccucci P, Meloni GF, Verrotti A et al. A study of three polymorphic sites of the ADA gene in children with type 1 diabetes mellitus. J Pediatr Endocrinol Metab 2010; 23:283-90.

Safranow K, Rzeuski R, Binczak-Kuleta A et al. ADA*2 allele of the adenosine deaminase gene may protect against coronary artery disease. Cardiology 2007; 108:275-81.

Seegmiller JE, Watanabe T, Shreier MH, Waldmann TA. Immunological aspects of purine metabolism. Adv Exp Med Biol 1977; 76:412-33.

Sharma S, Das M, Kumar A et al. Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians. Pharmacogenet Genomics 2009; 19:823-8.

van Ede AE, Laan RF, de Abreu RA, Stegeman AB, van de Putte LB. Purine enzymes in patients with rheumatoid arthritis treated with methotrexate. Ann Rheum Dis 2002; 61:1060-4.

Willems L, Reichelt ME, Molina JG et al. Effects of adenosine deaminase and A1 receptor deficiency in normoxic and ischaemic mouse hearts. Cardiovasc Res 2006; 71:79-87.

Xie W, Duan R, Safe S. Estrogen induces adenosine deaminase gene expression in MCF-7 human breast cancer cells: role of estrogen receptor-Sp1 interactions. Endocrinology 1999; 140:219-27.

Zhou Y, Mohsenin A, Morschl E et al. Enhanced airway inflammation and remodeling in adenosine deaminase-deficient mice lacking the A2B adenosine receptor. J Immunol 2009; 182:8037-46.

ADCY9 (adenylate cyclase 9)

Hacker BM, Tomlinson JE, Wayman GA et al. Cloning, chromosomal mapping, and regulatory properties of the human type 9 adenylyl cyclase (ADCY9). Genomics 1998; 50:97-104.

Ludwig MG, Seuwen K. Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. J Recept Signal Transduct Res 2002; 22:79-110.

Need AC, Keefe RS, Ge D et al. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. Eur J Hum Genet 2009; 17:946-57.

Paterson JM, Smith SM, Harmar AJ, Antoni FA. Control of a novel adenylyl cyclase by calcineurin. Biochem Biophys Res Commun 1995; 214:1000-8.

Premont RT, Matsuoka I, Mattei MG, Pouille Y, Defer N, Hanoune J. Identification and characterization of a widely expressed form of adenylyl cyclase. J Biol Chem 1996; 271:13900-7.

Small KM, Brown KM, Theiss CT, Seman CA, Weiss ST, Liggett SB. An Ile to Met polymorphism in the catalytic domain of adenylyl cyclase type 9 confers reduced beta2-adrenergic receptor stimulation. Pharmacogenetics 2003; 13:535-41.

Tantisira KG, Small KM, Litonjua AA, Weiss ST, Liggett SB. Molecular properties and pharmacogenetics of a polymorphism of adenylyl cyclase type 9 in asthma: interaction between beta-agonist and corticosteroid pathways. Hum Mol Genet 2005; 14:1671-7.

Toyota T, Hattori E, Meerabux J et al. Molecular analysis, mutation screening, and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders. Am J Med Genet 2002; 114:84-92.

Ye YM, Lee HY, Kim SH et al. Pharmacogenetic study of the effects of NK2R G231E G>A and TBX21 H33Q C>G polymorphisms on asthma control with inhaled corticosteroid treatment. J Clin Pharm Ther 2009; 34:693-701.

ADD1 (adducin 1 (alpha))

Allayee H, de Bruin TWA, Dominguez KM et al. Genome scan for blood pressure in Dutch dyslipidemic families reveals linkage to a locus on chromosome 4p. Hypertension 2001; 38:773-8.

Beeks E, Kessels AG, Kroon AA, van der Klauw MM, de Leeuw PW. Genetic predisposition to salt-sensitivity: a systematic review. J Hypertens 2004; 22:1243-9.

Cha SH, Kim HT, Jang Y et al. Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean population. J Hypertens 2007; 25:2413-20.

Cusi D, Barlassina C, Azzani T et al. Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 1997; 349:1353-7.

Cusi D, Barlassina C, Azzani T et al. Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 1997; 349:1353-7.

Davis BR, Arnett DK, Boerwinkle E et al. Antihypertensive therapy, the alpha-adducin polymorphism, and cardiovascular disease in high-risk hypertensive persons: the genetics of hypertension-associated treatment study. Pharmacogenomics J 2007; 7:112-22.

de Buyzere M. Selective genetic advantages for users of thiazide diuretics. Is there a case for the 460Trp variant of alpha-adducin? J Hypertens 2009; 27:24-7.

Efendiev R, Krmar RT, Ogimoto G et al. Hypertension-linked mutation in the adducin alpha-subunit leads to higher AP2-mu-2 phosphorylation and impaired Na+, K+-ATPase trafficking in response to GPCR signals and intracellular sodium. Circ Res 2004; 95:1100-8.

Fava C, Montagnana M, Almgren P et al. Association between adducin-1 G460W variant and blood pressure in Swedes is dependent on interaction with body mass index and gender. Am J Hypertens 2007; 20:981-9.

Gerhard T, Gong Y, Beitelshees AL et al. Alpha-adducin polymorphism associated with increased risk of adverse cardiovascular outcomes: results from GENEtic Substudy of the International VErapamil SR-trandolapril STudy (INVEST-GENES). Am Heart J 2008; 156:397-404.

Ju Z, Zhang H, Sun K et al. Alpha-adducin gene polymorphism is associated with essential hypertension in Chinese: a case-control and family-based study. J Hypertens 2003; 21:1861-8.

Kalita J, Misra UK, Bindu IS, Kumar B, Mittal B. Angiotensin-converting enzyme(rs4646994) and α ADDUCIN (rs4961) gene polymorphisms’ study in primary spontaneous intracerebral hemorrhage. Neurol India 2011; 59:41-6.

Kalita J, Somarajan BI, Kumar B, Mittal B, Misra UK. A study of ACE and ADD1 polymorphism in ischemic and hemorrhagic stroke. Clin Chim Acta 2011; 412:642-6.

Lanzani C, Citterio L, Jankaricova M et al. Role of the adducin family genes in human essential hypertension. J Hypertension 2005; 23:543-9.

Manunta P, Citterio L, Lanzani C, Ferrandi M. Adducin polymorphisms and the treatment of hypertension. Pharmacogenomics 2007; 8:465-72.

Manunta P, Lavery G, Lanzani C et al. Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation. Hypertension 2008; 52:366-72.

Niu WQ, Zhang Y, Ji KD, Gao PJ, Zhu DL. Lack of association between alpha-adducin G460W polymorphism and hypertension: evidence from a case-control study and a meta-analysis. J Hum Hypertens 2010; 24:467-74.

Plat AW, Stoffers HE, de Leeuw PW et al. The influence of six cardiovascular polymorphisms on a first event of ischemic heart disease is modified by sex and age. Coron Artery Dis 2009; 20:499-505.

Plat AW, Stoffers HE, Klungel OH et al. The contribution of six polymorphisms to cardiovascular risk in a Dutch high-risk primary care population: the HIPPOCRATES project. J Hum Hypertens 2009; 23:659-67.

Schelleman H, Klungel OH, Witteman JC et al. The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure. Eur J Hum Genet 2006; 14:860-6.

Sciarrone MT, Stella P, Barlassina C et al. ACE and alpha-adducin polymorphism as markers of individual response to diuretic therapy. Hypertension 2003; 41:398-403.

Suonsyrjä T, Hannila-Handelberg T, Fodstad H, Donner K, Kontula K, Hiltunen TP. Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study. Am J Hypertens 2009; 22:169-75.

Torielli L, Tivodar S, Montella RC et al. Alpha-adducin mutations increase Na/K pump activity in renal cells by affecting constitutive endocytosis: implications for tubular Na reabsorption. Am J Physiol Renal Physiol 2008; 295:478-87.

Turner ST, Chapman AB, Schwartz GL, Boerwinkle E. Effects of endothelial nitric oxide synthase, alpha-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide. Am J Hypertens 2003; 16:834-9.

van Rijn MJ, Bos MJ, Yazdanpanah M et al. Alpha-adducin polymorphism, atherosclerosis, and cardiovascular and cerebrovascular risk. Stroke 2006; 37:2930-4.

van Wieren-de Wijer DB, Maitland-van der Zee AH, de Boer A et al. Interaction between the Gly460Trp alpha-adducin gene variant and diuretics on the risk of myocardial infarction. J Hypertens 2009; 27:61-8.

Vormfelde SV, Sehrt D, Bolte D, Pahl S, Tzvetkov M, Brockmöller J. Hydrochlorothiazide efficacy and polymorphisms in ACE, ADD1 and GNB3 in healthy, male volunteers. Eur J Clin Pharmacol 2006; 62:195-201.

Wang R, Zhong B, Liu Y, Wang C. Association between alpha-adducin gene polymorphism (Gly460Trp) and genetic predisposition to salt sensitivity: a meta-analysis. J Appl Genet 2010; 51:87-94.

Yang H, Francis SC, Sellers K et al. Hypertension-linked decrease in the expression of brain gamma-adducin. Circ Res 2002; 91:633-9.

Yu Y, Niu T, Venners SA et al. Associations of baseline blood pressure levels and efficacy of Benazepril treatment with interaction of alpha-adducin and ACE gene polymorphisms in hypertensives. Clin Exp Hypertens 2005; 27:83-94.

Zafarmand MH, van der Schouw YT, Grobbee DE, de Leeuw PW, Bots ML. Alpha-adducin Gly460Trp variant increases the risk of stroke in hypertensive Dutch women. Hypertension 2008; 51:1665-70.

ADH1A (alcohol dehydrogenase 1A (class 1), alpha polypeptide)

Adinolfi A, Hopkinson DA. Blue sepharose chromatography of human alcohol dehydrogenase: evidence for interlocus and interallelic differences in affinity characteristics. Ann Hum Genet 1978; 41:399-407.

Edenberg HJ. Regulation of the mammalian alcohol dehydrogenase genes. Prog Nucleic Acids Res Molec Biol 2000; 64:295-341.

Edenberg HJ. The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants. Alcohol Res Health 2007; 30:5-13.

Goode EL, White KL, Vierkant RA et al. Xenobiotic-metabolizing gene polymorphisms and ovarian cancer risk. Mol Carcinog 2011; 50:397-402.

Guo KK, Ren J. Cardiac overexpression of alcohol dehydrogenase (ADH) alleviates aging-associated cardiomyocyte contractile dysfunction: role of intracellular Ca2+ cycling proteins. Aging Cell 2006; 5:259-65.

Kirkpatrick RB, Parveen Z, Martin PF. Isolation of silencer-containing sequences causing a tissue-specific position effect on alcohol dehydrogenase expression in Drosophila melanogaster. Dev Genet 1994; 15:188-200.

Lange LG, Sytkowski AJ, Vallee BL. Human liver alcohol dehydrogenase: purification, composition, and catalytic features. Biochemistry 1976; 15:4687-93.

Lee SL, Chau GY, Yao CT, Wu CW, Yin SJ. Functional assessment of human alcohol dehydrogenase family in ethanol metabolism: significance of first-pass metabolism. Alcohol Clin Exp Res 2006; 30:1132-42.

Luo X, Kranzler HR, Zuo L, Wang S, Schork NJ, Gelernter J. Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence. Am J Hum Genet 2006; 78:973-87.

Luo X, Kranzler HR, Zuo L, Wang S, Schork NJ, Gelernter J. Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans. Hum Mol Genet 2007; 16:380-90.

Nishimura FT, Kimura Y, Abe S, Fukunaga T, Saijoh K. Effects of polymorphisms in untranslated regions of the class I alcohol dehydrogenase (ADH) genes on alcohol metabolism in Japanese subjects and transcriptional activity in HepG2 cells. Nihon Arukoru Yakubutsu Igakkai Zasshi 2009; 44:139-55.

Oota H, Dunn CW, Speed WC et al. Conservative evolution in duplicated genes of the primate Class I ADH cluster. Gene 2007; 392:64-76.

Osier MV, Pakstis AJ, Soodyall H et al. A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am J Hum Genet 2002; 71:84-99.

Smith M, Duester G, Bilanchone V, Carlock L, Hatfield W. Derivation of probes for molecular genetic analysis of human class I alcohol dehydrogenase (ADH), a polymorphic gene family on chromosome 4. Am J Hum Genet 1984; 36:153.

Smith M, Duester G, Carlock L, Wasmuth J. Assignment of ADH1, ADH2 and ADH3 genes (class I ADH) to human chromosome 4q21-4q25, through use of DNA probes. Cytogenet Cell Genet 1985; 40:748.

Su JS, Tsai TF, Chang HM, Chao KM, Su TS, Tsai SF. Distant HNF1 site as a master control for the human class I alcohol dehydrogenase gene expression. J Biol Chem 2006; 281:19809-21.

Tsukahara M, Yoshida A. Chromosomal assignment of the alcohol dehydrogenase cluster locus to human chromosome 4q21-23 by in situ hybridization. Genomics 1989; 4:218-20.

von Bahr-Lindstrom H, Hoog JO, Heden LO et al. cDNA and protein structure for the alpha subunit of human liver alcohol dehydrogenase. Biochemistry 1986; 25:2465-70.

Yasunami M, Kikuchi I, Sarapata D, Yoshida A. The human class I alcohol dehydrogenase gene cluster: three genes are tandemly organized in an 80-kb-long segment of the genome. Genomics 1990; 7:152-8.

Zuo L, Gelernter J, Kranzler HR et al. ADH1A variation predisposes to personality traits and substance dependence. Am J Med Genet B Neuropsychiatr Genet 2010; 153:376-86.

ADH1B (alcohol dehydrogenase 1B (class 1), beta polypeptide)

Bosron WF, Magnes LJ, Li TK. Human liver alcohol dehydrogenase: ADH(Indianapolis) results from genetic polymorphism at the ADH-2 gene locus. Biochem Genet 1983; 21:735-44.

Burnell JC, Carr LG, Dwulet FE, Edenberg HJ, Li TK, Bosron WF. The human beta(3) alcohol dehydrogenase subunit differs from beta-1 by a cys for Arg-369 substitution which decreases NAD(H) binding. Biochem Biophys Res Commun 1987; 146:1227-33.

Carr LGC, Foroud T, Stewart T, Castelluccio P, Edenberg HJ, Li TK. Influence of ADH1B polymorphism on alcohol use and its subjective effects in a Jewish population. Am J Med Genet 2002; 112:138-43.

Chai YG, Oh DY, Chung EK et al. Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and type II alcoholism. Am J Psychiat 2005; 162:1003-5.

Chen CC, Lu RB, Chen YC et al. Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism. Am J Hum Genet 1999; 65:795-807.

Cichoz-Lach H, Partycka J, Nesina I, Celinski K, Slomka M, Wojcierowski J. Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals. Scand J Gastroenterol 2007; 42:493-8.

Crabb DW, Matsumoto M, Chang D, You M. Overview of the role of alcohol dehydrogenase and aldehyde dehydrogenase and their variants in the genesis of alcohol-related pathology. Proc Nutr Soc 2004; 63:49-63.

Duester G, Hatfield GW, Buhler R, Hempel J, Jornvall H, Smith M. Molecular cloning and characterization of cDNA for the beta subunit of human alcohol dehydrogenase. Proc Nat Acad Sci USA 1984; 81:4055-9.

Edenberg HJ. Regulation of the mammalian alcohol dehydrogenase genes. Prog Nucleic Acids Res Molec Biol 2000; 64:295-341.

Edenberg HJ, Xuei X, Chen HJ et al. Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. Hum Mol Genet 2006; 15:1539-49.

Ehlers CL. Variations in ADH and ALDH in Southwest California Indians. Alcohol Res Health 2007; 30:14-7.

Goedde HW, Agarwal DP, Fritze G et al. Distribution of ADH-2 and ALDH2 genotypes in different populations. Hum Genet 1992; 88:344-6.

Green RF, Stoler JM. Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview. Am J Obstet Gynecol 2007; 197:12-25.

Han Y, Gu S, Oota H et al. Evidence of positive selection on a class I ADH locus. Am J Hum Genet 2007; 80:441-56.

Higuchi S, Muramatsu T, Matsushita S, Murayama M, Hayashida M. Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2. Hum Genet 1996; 97:413-34.

Kawase T, Matsuo K, Hiraki A et al. Interaction of the effects of alcohol drinking and polymorphisms in alcohol-metabolizing enzymes on the risk of female breast cancer in Japan. J Epidemiol 2009; 19:244-50.

Lee CH, Wu DC, Wu IC et al. Genetic modulation of ADH1B and ALDH2 polymorphisms with regard to alcohol and tobacco consumption for younger aged esophageal squamous cell carcinoma diagnosis. Int J Cancer 2009; 125:1134-42.

Lee SL, Chau GY, Yao CT, Wu CW, Yin SJ. Functional assessment of human alcohol dehydrogenase family in ethanol metabolism: significance of first-pass metabolism. Alcohol Clin Exp Res 2006; 30:1132-42.

Lee SL, Höög JO, Yin SJ. Functionality of allelic variations in human alcohol dehydrogenase gene family: assessment of a functional window for protection against alcoholism. Pharmacogenetics 2004; 14:725-32.

Li H, Mukherjee N, Soundararajan U et al. Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia. Am J Hum Genet 2007; 81:842-6.

Lilla C, Koehler T, Kropp S, Wang-Gohrke S, Chang-Claude J. Alcohol dehydrogenase 1B (ADH1B) genotype, alcohol consumption and breast cancer risk by age 50 years in a German case-control study. Br J Cancer 2005; 92:2039-41.

Linneberg A, González-Quintela A, Vidal C et al. Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. Clin Exp Allergy 2010; 40:123-30.

Long JC, Knowler WC, Hanson RL et al. Evidence for genetic linkage to alcohol dependence on chromosomes 4 and 11 from an autosome-wide scan in an American Indian population. Am J Med Genet 1998; 81:216-21.

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Osier MV, Pakstis AJ, Soodyall H et al. A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am J Hum Genet 2002; 71:84-99.

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Suzuki Y, Fujisawa M, Ando F et al. Alcohol dehydrogenase 2 variant is associated with cerebral infarction and lacunae. Neurology 2004; 63:1711-3.

Takeshita T, Mao XQ, Morimoto K. The contribution of polymorphism in the alcohol dehydrogenase beta subunit to alcohol sensitivity in a Japanese population. Hum Genet 1996; 97:409-13.

Tanaka F, Shiratori Y, Yokosuka O, Imazeki F, Tsukada Y, Omata M. Polymorphism of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese men. Alcohol Clin Exp Res 1997; 21:596-601.

Xu Y, Carr LG, Bosron WF, Li TK, Edenberg HJ. Genotyping of human alcohol dehydrogenases at the ADH2 and ADH3 loci following DNA sequence amplification. Genomics 1988; 2:209-14.

Yin G, Kono S, Toyomura K et al. Alcohol dehydrogenase and aldehyde dehydrogenase polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study. Cancer Sci 2007; 98:1248-53.

Yin SJ, Bosron WF, Li TK et al. Polymorphism of human liver alcohol dehydrogenase: identification of ADH(2)2-1 and ADH(2)2-2 phenotypes in the Japanese by isoelectric focusing. Biochem Genet 1984; 22:169-80.

Yokoyama S, Yokoyama R, Rotwein P. Molecular characterization of cDNA clones encoding the human alcohol dehydrogenase beta-1 and the evolutionary relationship to the other class I subunits alpha and gamma. Jpn J Genet 1987; 62:241-56.

Zintzaras E, Stefanidis I, Santos M, Vidal F. Do alcohol-metabolizing enzyme gene polymorphisms increase the risk of alcoholism and alcoholic liver disease? Hepatology 2006; 43:352-61.

Zuccolo L, Fitz-Simon N, Gray R et al. A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women. Hum Mol Genet 2009; 18:4457-66.

ADH1C (alcohol dehydrogenase 1C (class 1), gamma polypeptide)

Benzon Larsen S, Vogel U, Christensen J et al. Interaction between ADH1C Arg(272)Gln and alcohol intake in relation to breast cancer risk suggests that ethanol is the causal factor in alcohol related breast cancer. Cancer Lett 2010; 295:191-7.

Bongaerts BW, de Goeij AF, Wouters KA et al. Alcohol consumption, alcohol dehydrogenase 1C (ADH1C) genotype, and risk of colorectal cancer in the Netherlands Cohort Study on diet and cancer. Alcohol 2011; 45:217-25.

Brennan P, Lewis S, Hashibe M et al. Pooled analysis of alcohol dehydrogenase genotypes and head and neck cancer: a HuGE review. Am J Epidemiol 2004; 159:1-16.

Buervenich S, Carmine A, Galter D et al. A rare truncating mutation in ADH1C (G78stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol 2005; 62:74-8.

Chai YG, Oh DY, Chung EK et al. Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and type II alcoholism. Am J Psychiat 2005; 162:1003-5.

Cichoz-Lach H, Partycka J, Nesina I, Celinski K, Słomka M, Wojcierowski J. Genetic polymorphism of alcohol dehydrogenase 3 in alcohol liver cirrhosis and in alcohol chronic pancreatitis. Alcohol Alcohol 2006; 41:14-7.

Cichoz-Lach H, Partycka J, Nesina I, Celinski K, Slomka M, Wojcierowski J. Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals. Scand J Gastroenterol 2007; 42:493-8.

Ebrahim S, Lawlor DA, Shlomo YB et al. Alcohol dehydrogenase type 1C (ADH1C) variants, alcohol consumption traits, HDL-cholesterol and risk of coronary heart disease in women and men: British Women’s Heart and Health Study and Caerphilly cohorts. Atherosclerosis 2008; 196:871-8.

Heidrich J, Wellmann J, Döring A, Illig T, Keil U. Alcohol consumption, alcohol dehydrogenase and risk of coronary heart disease in the MONICA/KORA-Augsburg cohort 1994/1995-2002. Eur J Cardiovasc Prev Rehabil 2007; 14:769-74.

Hines LM, Stampfer MJ, Ma J et al. Genetic variation in alcohol dehydrogenase and the beneficial effect of moderate alcohol consumption on myocardial infarction. New Eng J Med 2001; 344:549-55.

Homann N, König IR, Marks M et al. Alcohol and colorectal cancer: the role of alcohol dehydrogenase 1C polymorphism. Alcohol Clin Exp Res 2009; 33:551-6.

Homann N, Stickel F, König IR et al. Alcohol dehydrogenase 1C*1 allele is a genetic marker for alcohol-associated cancer in heavy drinkers. Int J Cancer 2006; 118:1998-2002.

Höög JO, Hedén LO, Larsson K, Jörnvall H, von Bahr-Lindström H. The gamma 1 and gamma 2 subunits of human liver alcohol dehydrogenase. cDNA structures, two amino acid replacements, and compatibility with changes in the enzymatic properties. Eur J Biochem 1986; 159:215-8.

Kendler KS, Kalsi G, Holmans PA et al. Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of Schizophrenia (MGS2) Control Sample. Alcohol Clin Exp Res 2011; 35:963-75.

Latella MC, di Castelnuovo A, de Lorgeril M et al. Genetic variation of alcohol dehydrogenase type 1C (ADH1C), alcohol consumption, and metabolic cardiovascular risk factors: results from the IMMIDIET study. Atherosclerosis 2009; 207:284-90.

Lee SL, Chau GY, Yao CT, Wu CW, Yin SJ. Functional assessment of human alcohol dehydrogenase family in ethanol metabolism: significance of first-pass metabolism. Alcohol Clin Exp Res 2006; 30:1132-42.

Martínez C, Galván S, García-Martín E, Ramos MI, Gutiérrez-Martín Y, Agúndez JA. Variability in ethanol biodisposition in whites is modulated by polymorphisms in the ADH1B and ADH1C genes. Hepatology 2010; 51:491-500.

Matsumoto M, Takahashi H, Maruyama K et al. Genotypes of alcohol-metabolizing enzymes and the risk for alcoholic chronic pancreatitis in Japanese alcoholics. Alcohol Clin Exp Res 1996; 20(9 Suppl):289-92.

Matsuo K, Hiraki A, Hirose K et al. Impact of the alcohol-dehydrogenase (ADH) 1C and ADH1B polymorphisms on drinking behavior in nonalcoholic Japanese. Hum Mutat 2007; 28:506-10.

Montane-Jaime K, Moore S, Shafe S et al. ADH1C*2 allele is associated with alcohol dependence and elevated liver enzymes in Trinidad and Tobago. Alcohol 2006; 39:81-6.

Mulligan CJ, Robin RW, Osier MV et al. Allelic variation at alcohol metabolism genes (ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population. Hum Genet 2003; 113:325-36.

Olshan AF, Weissler MC, Watson MA, Bell DA. Risk of head and neck cancer and the alcohol dehydrogenase 3 genotype. Carcinogenesis 2001; 22:57-61.

Seitz HK, Stickel F. Acetaldehyde as an underestimated risk factor for cancer development: role of genetics in ethanol metabolism. Genes Nutr 20; 5:121-8.

Tolstrup JS, Grønbaek M, Nordestgaard BG. Alcohol intake, myocardial infarction, biochemical risk factors, and alcohol dehydrogenase genotypes. Circ Cardiovasc Genet 2009; 2:507-14.

Tolstrup JS, Nordestgaard BG, Rasmussen S, Tybjaerg-Hansen A, Grønbaek M. Alcoholism and alcohol drinking habits predicted from alcohol dehydrogenase genes. Pharmacogenomics J 2008; 8:220-7.

Treutlein J, Cichon S, Ridinger M et al. Genome-wide association study of alcohol dependence. Arch Gen Psychiatry 2009; 66:773-84.

Vonlaufen A, Wilson JS, Pirola RC, Apte MV. Role of alcohol metabolism in chronic pancreatitis. Alcohol Res Health 2007; 30:48-54.

Xu Y, Carr LG, Bosron WF, Li TK, Edenberg HJ. Genotyping of human alcohol dehydrogenases at the ADH2 and ADH3 loci following DNA sequence amplification. Genomics 1988; 2:209-14.

Yang M, Coles BF, Delongchamp R, Lang NP, Kadlubar FF. Effects of the ADH3, CYP2E1, and GSTP1 genetic polymorphisms on their expressions in Caucasian lung tissue. Lung Cancer 2002; 38:15-21

Younis J, Cooper JA, Miller GJ, Humphries SE, Talmud PJ. Genetic variation in alcohol dehydrogenase 1C and the beneficial effect of alcohol intake on coronary heart disease risk in the Second Northwick Park Heart Study. Atherosclerosis 2005; 180:225-32.

Zgombic-Knight M, Deltour L, Haselbeck RJ, Foglio MH, Duester G. Gene structure and promoter for Adh3 encoding mouse class IV alcohol dehydrogenase (retinol dehydrogenase). Genomics 1997; 41:105-9.

ADIPOQ (adiponectin, C1Q and collagen domain containing)

Bozkurt O, de Boer A, Grobbee DE, Heerdink ER, Burger H, Klungel OH. Pharmacogenetics of glucose-lowering drug treatment: a systematic review. Mol Diagn Ther 2007; 11:291-302.

Cesari M, Narkiewicz K, de Toni R et al. Heritability of plasma adiponectin levels and body mass index in twins. J Clin Endocr Metab 2007; 92:3082-8.

Chiodini BD, Specchia C, Gori F et al. Adiponectin gene polymorphisms and their effect on the risk of myocardial infarction and type 2 diabetes: an association study in an Italian population. Ther Adv Cardiovasc Dis 2010; 4:223-30.

Coletta DK, Sriwijitkamol A, Wajcberg E et al. Pioglitazone stimulates AMP-activated protein kinase signalling and increases the expression of genes involved in adiponectin signalling, mitochondrial function and fat oxidation in human skeletal muscle in vivo: a randomised trial. Diabetologia 2009; 52:723-32.

Combs TP, Wagner JA, Berger J et al. Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization. Endocrinology 2002; 143:998-1007.

Comuzzie AG, Funahashi T, Sonnenberg G et al. The genetic basis of plasma variation in adiponectin, a global endophenotype for obesity and the metabolic syndrome. J Clin Endocr Metab 2001; 86:4321-5.

Cook JR, Semple RK. Hypoadiponectinemia-cause or consequence of human “insulin resistance”? J Clin Endocrinol Metab 2010; 95:1544-54.

Daniele A, Cammarata R, Pasanisi F et al. Molecular analysis of the adiponectin gene in severely obese patients from southern Italy. Ann Nutr Metab 2008; 53:155-61.

Denzel MS, Hebbard LW, Shostak G, Shapiro L, Cardiff RD, Ranscht B. Adiponectin deficiency limits tumor vascularization in the MMTV-PyV-mT mouse model of mammary cancer. Clin Cancer Res 2009; 15:3256-64.

Dolley G, Bertrais S, Frochot V et al. Promoter adiponectin polymorphisms and waist/hip ratio variation in a prospective French adults study. Int J Obes 2008; 32:669-75.

Ferguson JF, Phillips CM, Tierney AC et al. Gene-nutrient interactions in the metabolic syndrome: single nucleotide polymorphisms in ADIPOQ and ADIPOR1 interact with plasma saturated fatty acids to modulate insulin resistance. Am J Clin Nutr 2010; 91:794-801.

Filippi E, Sentinelli F, Romeo S et al. The adiponectin gene SNP+276G>T associates with early-onset coronary artery disease and with lower levels of adiponectin in younger coronary artery disease patients (age <or=50 years). J Mol Med 2005; 83:711-9.

Filippi E, Sentinelli F, Trishitta V et al. Association of the human adiponectin gene and insulin resistance. Eur J Hum Genet 2004; 12:199-205.

Flachs P, Mohamed-Ali V, Horakova O et al. Polyunsaturated fatty acids of marine origin induce adiponectin in mice fed a high-fat diet. Diabetologia 2006; 49:394-7.

Gu HF. Biomarkers of adiponectin: plasma protein variation and genomic DNA polymorphisms. Biomark Insights 2009; 4:123-33.

Hegener HH, Lee IM, Cook NR, Ridker PM, Zee RY. Association of adiponectin gene variations with risk of incident myocardial infarction and ischemic stroke: a nested case-control study. Clin Chem 2006; 52:2021-7.

Heid IM, Henneman P, Hicks A et al. Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. Atherosclerosis 2010; 208:412-20.

Heinonen S, Korhonen S, Helisalmi S et al. Associations between two single nucleotide polymorphisms in the adiponectin gene and polycystic ovary syndrome. Gynecol Endocrinol 2005; 21:165-9.

Henneman P, Aulchenko YS, Frants RR et al. Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits. Diabetes Care 2010; 33:908-13.

Hivert MF, Manning AK, McAteer JB et al. Common variants in the adiponectin gene (ADIPOQ) associated with plasma adiponectin levels, type 2 diabetes, and diabetes-related quantitative traits: the Framingham Offspring Study. Diabetes 2008; 57:3353-9.

Ipatova OM, Prozorovskaia NN, Baranova VS, Guseva DA. Biological activity of linseed oil as the source of omega-3 alpha-linolenic acid. Biomed Khim 2004; 50:25-43.

Johansson LE, Danielsson P, Norgren S, Marcus C, Ridderstråle M. Interaction between PPARG Pro12Ala and ADIPOQ G276T concerning cholesterol levels in childhood obesity. Int J Pediatr Obes 2009; 4:119-25.

Jung CH, Rhee EJ, Kim SY et al. Associations between two single nucleotide polymorphisms of adiponectin gene and coronary artery diseases. Endocr J 2006; 53:671-7.

Kusminski CM, Scherer PE. The road from discovery to clinic: adiponectin as a biomarker of metabolic status. Clin Pharmacol Ther 2009; 86:592-5.

Lee J, Chen L, Snieder H et al. Heritability of obesity-related phenotypes and association with adiponectin gene polymorphisms in the Chinese national twin registry. Ann Hum Genet 2010; 74:146-54.

Li LL, Kang XL, Ran XJ et al. Associations between 45T/G polymorphism of the adiponectin gene and plasma adiponectin levels with type 2 diabetes. Clin Exp Pharmacol Physiol 2007; 34:1287-90.

Ling H, Waterworth DM, Stirnadel HA et al. Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. Obesity 2009; 17:737-44.

Liu F, He Z, Deng S, Zhang H, Li N, Xu J. Association of adiponectin gene polymorphisms with the risk of ischemic stroke in a Chinese Han population. Mol Biol Rep 2011; 38:1983-8.

Loos RJ, Ruchat S, Rankinen T, Tremblay A, Pérusse L, Bouchard C. Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study. Am J Clin Nutr 2007; 85:26-34.

Ma J, Möllsten A, Falhammar H et al. Genetic association analysis of the adiponectin polymorphisms in type 1 diabetes with and without diabetic nephropathy. J Diabetes Complications 2007; 21:28-33.

Mackevics V, Heid IM, Wagner SA et al. The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy Caucasians. Europ J Hum Genet 2006; 14:349-56.

Maeda K, Okubo K, Shimomura I, Funahashi T, Matsuzawa Y, Matsubara K. cDNA cloning and expression of a novel adipose specific collagen-like factor, apM1 (adipose most abundant gene transcript 1). Biochem Biophys Res Commun 1996; 221:286-9.

Maillard V, Uzbekova S, Guignot F et al. Effect of adiponectin on bovine granulosa cell steroidogenesis, oocyte maturation and embryo development. Reprod Biol Endocrinol 2010; 8:23.

Menzaghi C, Ercolino T, Di Paola R et al. A haplotype at the adiponectin locus is associated with obesity and other features of the insulin resistance syndrome. Diabetes 2002; 51:2306-12.

Menzaghi C, Salvemini L, Paroni G et al. Circulating high molecular weight adiponectin isoform is heritable and shares a common genetic background with insulin resistance in nondiabetic White Caucasians from Italy: evidence from a family-based study. J Intern Med 2010; 267:287-94.

Morandi A, Maffeis C, Lobbens S et al. Early detrimental metabolic outcomes of rs17300539-A allele of ADIPOQ gene despite higher adiponectinemia. Obesity 2010; 18:1469-73.

Nelson TL, Stevens JR, Hickey MS. Adiponectin levels are reduced, independent of polymorphisms in the adiponectin gene, after supplementation with alpha-linolenic acid among healthy adults. Metabolism 2007; 56:1209-15.

Ntalla I, Dedoussis G, Yannakoulia M et al. ADIPOQ gene polymorphism rs1501299 interacts with fibre intake to affect adiponectin concentration in children: the GENe-Diet Attica Investigation on childhood obesity. Eur J Nutr 2009; 48:493-7.

O’Connor A, Phelan N, Tun TK, Boran G, Gibney J, Roche HM. High-molecular-weight adiponectin is selectively reduced in women with polycystic ovary syndrome independent of body mass index and severity of insulin resistance. J Clin Endocrinol Metab 2010; 95:1378-85.

Pajvani UB, Scherer PE. Adiponectin: systemic contributor to insulin sensitivity. Curr Diab Rep 2003; 3:207-13.

Pérez-Martínez P, López-Miranda J, Cruz-Teno C et al. Adiponectin gene variants are associated with insulin sensitivity in response to dietary fat consumption in Caucasian men. J Nutr 2008; 138:1609-14.

Persson J, Lindberg K, Gustafsson TP, Eriksson P, Paulsson-Berne G, Lundman P. Low plasma adiponectin concentration is associated with myocardial infarction in young individuals. J Intern Med 2010; 268:194-205.

Rasmussen-Torvik LJ, Pankow JS, Jacobs DR Jr, Steinberger J, Moran A, Sinaiko AR. The association of SNPs in ADIPOQ, ADIPOR1, and ADIPOR2 with insulin sensitivity in a cohort of adolescents and their parents. Hum Genet 2009; 125:21-8.

Schwarz PE, Govindarajalu S, Towers W et al. Haplotypes in the promoter region of the ADIPOQ gene are associated with increased diabetes risk in a German Caucasian population. Horm Metab Res 2006; 38:447-51.

Shibata R, Sato K, Pimentel DR et al. Adiponectin protects against myocardial ischemia-reperfusion injury through AMPK- and COX-2-dependent mechanisms. Nat Med 2005; 11:1096-103.

Sun H, Gong ZC, Yin JY et al. The association of adiponectin allele 45T/G and -11377C/G polymorphisms with Type 2 diabetes and rosiglitazone response in Chinese patients. Br J Clin Pharmacol 2008; 65:917-26.

Takemura Y, Ouchi N, Shibata R et al. Adiponectin modulates inflammatory reactions via calreticulin receptor-dependent clearance of early apoptotic bodies. J Clin Invest 2007; 117:375-86.

Teoh H, Quan A, Bang KW et al. Adiponectin deficiency promotes endothelial activation and profoundly exacerbates sepsis-related mortality. Am J Physiol Endocrinol Metab 2008; 295:658-64.

Tsuzaki K, Kotani K, Nagai N et al. Adiponectin gene single-nucleotide polymorphisms and treatment response to obesity. J Endocrinol Invest 2009; 32:395-400.

Vasseur F, Caeyseele T, Barat-Houari M et al. Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population. J Hum Genet 2010; 55:227-31.

Vasseur F, Helbecque N, Dina C et al. Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians. Hum Molec Genet 2002; 11:2607-14.

Vasseur F, Meyre D, Froguel P. Adiponectin, type 2 diabetes and the metabolic syndrome: lessons from human genetic studies. Expert Rev Mol Med 2006; 8:1-12.

Vionnet N, Tregouët D, Kazeem G et al. Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: strongest evidence for association with a variant in the promoter region of the adiponectin gene. Diabetes 2006; 55:3166-74.

Wagner JA, Wright EC, Ennis MM et al. Utility of adiponectin as a biomarker predictive of glycemic efficacy is demonstrated by collaborative pooling of data from clinical trials conducted by multiple sponsors. Clin Pharmacol Ther 2009; 86:619-25.

Wang X, Zhang S, Chen Y et al. APM1 gene variants -11377C/G and 4545G/C are associated respectively with obesity and with non-obesity in Chinese type 2 diabetes. Diabetes Res Clin Pract 2009; 84:205-10.

Warodomwichit D, Shen J, Arnett DK et al. ADIPOQ polymorphisms, monounsaturated fatty acids, and obesity risk: the GOLDN study. Obesity 2009; 17:510-7.

Wassel CL, Pankow JS, Jacobs DR Jr, Steffes MW, Li N, Schreiner PJ. Variants in the Adiponectin Gene and Serum Adiponectin: The Coronary Artery Development in Young Adults (CARDIA) Study. Obesity 2010; 18:2333-8.

Westerbacka J, Cornér A, Kannisto K et al. Acute in vivo effects of insulin on gene expression in adipose tissue in insulin-resistant and insulin-sensitive subjects. Diabetologia 2006; 49:132-40.

Wong GW, Wang J, Hug C, Tsao TS, Lodish HF. A family of Acrp30/adiponectin structural and functional paralogs. Proc Nat Acad Sci USA 2004; 101:10302-7.

Yang WS, Yang YC, Chen CL et al. Adiponectin SNP276 is associated with obesity, the metabolic syndrome, and diabetes in the elderly. Am J Clin Nutr 2007; 86:509-13.

Zacharova J, Chiasson JL, Laakso M; STOP-NIDDM Study Group. The common polymorphisms (single nucleotide polymorphism [SNP] +45 and SNP +276) of the adiponectin gene predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. Diabetes 2005; 54:893-9.

Zhang H, Jia WP, Hu C et al. The effect of single nucleotide polymorphism SNP + 45 of the adiponectin gene on the rosiglitazone maleate response in patients with type 2 diabetes. Zhonghua Yi Xue Za Zhi 2007; 87:2390-3.

Zhang N, Shi YH, Hao CF et al. Association of +45G15G(T/G) and +276(G/T) polymorphisms in the ADIPOQ gene with polycystic ovary syndrome among Han Chinese women. Eur J Endocrinol 2008; 158:255-60.

ADORA2A (adenosine A2a receptor)

Bertelli M, Cecchin S, Lapucci C et al. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). Clin Chim Acta 2006; 373:104-7.

Childs E, Hohoff C, Deckert J, Xu K, Badner J, de Wit H. Association between ADORA2A and DRD2 polymorphisms and caffeine-induced anxiety. Neuropsychopharmacology 2008; 33:2791-800.

Cornelis MC, El-Sohemy A, Campos H. Genetic polymorphism of the adenosine A2A receptor is associated with habitual caffeine consumption. Am J Clin Nutr 2007; 86:240-4.

Cristalli G, Cacciari B, Dal Ben D et al. Highlights on the development of A(2A) adenosine receptor agonists and antagonists. ChemMedChem 2007; 2:260-81.

Cristalli G, Müller CE, Volpini R. Recent developments in adenosine A2A receptor ligands. Handb Exp Pharmacol 2009; 5:59-98.

Dhaenens CM, Burnouf S, Simonin C et al. A genetic variation in the ADORA2A gene modifies age at onset in Huntington’s disease. Neurobiol Dis 2009; 35:474-6.

Facheris MF, Schneider NK, Lesnick TG et al. Coffee, caffeine-related genes, and Parkinson’s disease: a case-control study. Mov Disord 2008; 23:2033-40.

Fredholm BB, Arslan G, Halldner L, Kull B, Schulte G, Wasserman W. Structure and function of adenosine receptors and their genes. Naunyn Schmiedebergs Arch Pharmacol 2000; 362:364-74.

Hamilton SP, Slager SL, de Leon AB et al. Evidence for genetic linkage between a polymorphism in the adenosine 2A receptor and panic disorder. Neuropsychopharmacology 2004; 29:558-65.

Haskó G, Cronstein BN. Adenosine: an endogenous regulator of innate immunity. Trends Immunol 2004; 25:33-9.

Hider SL, Thomson W, Mack LF, Armstrong DJ, Shadforth M, Bruce IN. Polymorphisms within the adenosine receptor 2a gene are associated with adverse events in RA patients treated with MTX. Rheumatology 2008; 47:1156-9.

Hohoff C, Mullings EL, Heatherley SV et al. Adenosine A(2A) receptor gene: Evidence for association of risk variants with panic disorder and anxious personality. J Psychiatr Res 2010; 44:930-7.

Huang ZL, Qu WM, Eguchi N et al. Adenosine A2A, but not A1, receptors mediate the arousal effect of caffeine. Nat Neurosci 2005; 8:858-9.

Jaakola VP, Griffith MT, Hanson MA et al. The 2. 6 angstrom crystal structure of a human A2A adenosine receptor bound to an antagonist. Science 2008; 322:1211-7.

Lam P, Hong CJ, Tsai SJ. Association study of A2a adenosine receptor genetic polymorphism in panic disorder. Neurosci Lett 2005; 378:98-101.

Le F, Townsend-Nicholson A, Baker E, Sutherland GR, Schofield PR. Characterization and chromosomal localization of the human A2a adenosine receptor gene: ADORA2A. Biochem Biophys Res Commun 1996; 223:461-7.

Montesinos MC, Desai A, Delano D et al. Adenosine A2A or A3 receptors are required for inhibition of inflammation by methotrexate and its analog MX-68. Arthritis Rheum 2003; 48:240-7.

Moro S, Gao ZG, Jacobson KA, Spalluto G. Progress in the pursuit of therapeutic adenosine receptor antagonists. Med Res Rev 2006; 26:131-59.

Ohta A, Sitkovsky M. Role of G-protein-coupled adenosine receptors in downregulation of inflammation and protection from tissue damage. Nature 2001; 414:916-20.

Popat RA, van den Eeden SK, Tanner CM et al. Coffee, ADORA2A, and CYP1A2: the caffeine connection in Parkinson’s disease. Eur J Neurol 2011; 18:756-65.

Rétey JV, Adam M, Khatami R et al. A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clin Pharmacol Ther 2007; 81:692-8.

Riksen NP, Franke B, van den Broek P, Smits P, Rongen GA. The 1976C>T polymorphism in the adenosine A2A receptor gene does not affect the vasodilator response to adenosine in humans in vivo. Pharmacogenet Genomics 2007; 17:551-4.

Rogers PJ, Hohoff C, Heatherley SV et al. Association of the anxiogenic and alerting effects of caffeine with ADORA2A and ADORA1 polymorphisms and habitual level of caffeine consumption. Neuropsychopharmacology 2010; 35:1973-83.

Sharma S, Das M, Kumar A et al. Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians. Pharmacogenet Genomics 2009; 19:823-8.

Yu L, Huang Z, Mariani J, Wang Y, Moskowitz M, Chen JF. Selective inactivation or reconstitution of adenosine A2a receptors in bone marrow cells reveals their significant contribution to the development of ischemic brain injury. Nat Med 2004; 10:1081-7.

ADRA1A (adrenergic, alpha-1A-, receptor)

Alvarez-Guerra M, Bertholom N, Garay RP. Selective blockade by nicergoline of vascular responses elicited by stimulation of alpha 1A-adrenoceptor subtype in the rat. Fundam Clin Pharmacol 1999; 13:50-8.

Andersohn F, Schmedt N, Weinmann S, Willich SN, Garbe E. Priapism associated with antipsychotics: role of alpha1 adrenoceptor affinity. J Clin Psychopharmacol 2010; 30:68-71.

Bernardi RE, Lattal KM. A role for alpha-adrenergic receptors in extinction of conditioned fear and cocaine conditioned place preference. Behav Neurosci 2010; 124:204-10.

Chang DJ, Chang TK, Yamanishi SS et al. Molecular cloning, genomic characterization and expression of novel human alpha-1A-adrenoceptor isoforms. FEBS Lett 1998; 422:279-83.

Cohen BM, Lipinski JF. In vivo potencies of antipsychotic drugs in blocking alpha 1 noradrenergic and dopamine D2 receptors: implications for drug mechanisms of action. Life Sci 1986; 39:2571-80.

Compton MT, Miller AH. Priapism associated with conventional and atypical antipsychotic medications: a review. J Clin Psychiatry 2001; 62:362-6.

Davies MF, Tsui JY, Flannery JA, Li X, DeLorey TM, Hoffman BB. Augmentation of the noradrenergic system in alpha-2 adrenergic receptor deficient mice: anatomical changes associated with enhanced fear memory. Brain Res 2003; 986:157-65.

Devedjian JC, Pujol A, Cayla C et al. Transgenic mice overexpressing alpha2A-adrenoceptors in pancreatic beta-cells show altered regulation of glucose homeostasis. Diabetologia 2000; 43:899-906.

Do-Monte FH, Allensworth M, Carobrez AP. Impairment of contextual conditioned fear extinction after microinjection of alpha-1-adrenergic blocker prazosin into the medial prefrontal cortex. Behav Brain Res 2010; 211:89-95.

Du L, Li M. Modeling the Interactions Between alpha(1)-Adrenergic Receptors and Their Antagonists. Curr Comput Aided Drug Des 2010; 6:165-78.

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Goldenstein BL, Nelson BW, Xu K et al. Regulator of G protein signaling protein suppression of Galphao protein-mediated alpha2A adrenergic receptor inhibition of mouse hippocampal CA3 epileptiform activity. Mol Pharmacol 2009; 75:1222-30.

Görnemann T, Jähnichen S, Schurad B et al. Pharmacological properties of a wide array of ergolines at functional alpha(1)-adrenoceptor subtypes. Naunyn Schmiedebergs Arch Pharmacol 2008; 376:321-30.

Gu D, Ge D, Snieder H et al. Association of alpha1A adrenergic receptor gene variants on chromosome 8p21 with human stage 2 hypertension. J Hypertens 2006; 24:1049-56.

Gupta MK, Papay RS, Jurgens CW et al. alpha1-Adrenergic receptors regulate neurogenesis and gliogenesis. Mol Pharmacol 2009; 76:314-26.

Hals PA, Hall H, Dahl SG. Phenothiazine drug metabolites: dopamine D2 receptor, alpha 1- and alpha 2-adrenoceptor binding. Eur J Pharmacol 1986; 125:373-81.

Ho MK, Tyndale RF. Oerview of the pharmacogenomics of cigarette smoking. Pharmacogenomics J 2007; 7:81-98.

Kitsios GD, Zintzaras E. Synopsis and data synthesis of genetic association studies in hypertension for the adrenergic receptor family genes: the CUMAGAS-HYPERT database. Am J Hypertens 2010; 23:305-13.

Klotsman M, Weinberg CR, Davis K, Binnie CG, Hartmann KE. A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH. Pharmacogenomics J 2004; 4:251-9.

Liu YR, Loh EW, Lan TH et al. ADRA1A gene is associated with BMI in chronic schizophrenia patients exposed to antipsychotics. Pharmacogenomics J 2010; 10:30-9.

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Saiz PA, Susce MT, Clark DA et al. An investigation of the alpha1A-adrenergic receptor gene and antipsychotic-induced side-effects. Hum Psychopharmacol 2008; 23:107-14.

Sallinen J, Haapalinna A, Viitamaa T, Kobilka BK, Scheinin M. Adrenergic alpha2C-receptors modulate the acoustic startle reflex, prepulse inhibition, and aggression in mice. J Neurosci 1998; 18:3035-42.

Shieh JP, Chu CC, Wang JJ, Lin MT. Epinephrine, phenylephrine, and methoxamine induce infiltrative anesthesia via alpha1-adrenoceptors in rats. Acta Pharmacol Sin 2009; 30:1227-36.

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Tseng-Crank J, Kost T, Goetz A et al. The alpha-1C-adrenoceptor in human prostate: cloning, functional expression, and localization to specific prostatic cell types. Brit J Pharm 1995; 115:1475-85.

Woodcock EA. Roles of alpha1A- and alpha1B-adrenoceptors in heart: insights from studies of genetically modified mice. Clin Exp Pharmacol Physiol 2007; 34:884-8.

Yono M, Foster HE Jr, Shin D, Takahashi W, Pouresmail M, Latifpour J. Doxazosin-induced up-regulation of alpha 1A-adrenoceptor mRNA in the rat lower urinary tract. Can J Physiol Pharmacol 2004; 82:872-8.

ADRA2A (adrenergic, alpha-2A-, receptor)

Bavadekar SA, Hong SS, Lee SI, Miller DD, Feller DR. Bioisosteric phentolamine analogs as selective human alpha(2)- versus alpha(1)-adrenoceptor ligands. Eur J Pharmacol 2008; 590:53-60.

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Chen QJ, Lu L, Jin C et al. Insertion/insertion genotype of α(2B)-adrenergic receptor gene polymorphism is associated with silent myocardial ischemia in patients with type 2 diabetes mellitus. Clin Biochem 2010; 43:1201-4.

Cheon KA, Cho DY, Koo MS, Song DH, Namkoong K. Association between homozygosity of a G allele of the alpha-2a-adrenergic receptor gene and methylphenidate response in Korean children and adolescents with attention-deficit/hyperactivity disorder. Biol Psychiatry 2009; 65:564-70.

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Davies MF, Tsui JY, Flannery JA, Li X, DeLorey TM, Hoffman BB. Augmentation of the noradrenergic system in alpha-2 adrenergic receptor deficient mice: anatomical changes associated with enhanced fear memory. Brain Res 2003; 986:157-65.

Deupree JD, Smith SD, Kratochvil CJ et al. Possible involvement of alpha-2A adrenergic receptors in attention deficit hyperactivity disorder: radioligand binding and polymorphism studies. Am J Med Genet B Neuropsychiatr Genet 2006; 141:877-84.

Devedjian JC, Pujol A, Cayla C et al. Transgenic mice overexpressing alpha2A-adrenoceptors in pancreatic beta-cells show altered regulation of glucose homeostasis. Diabetologia 2000; 43:899-906.

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Goldenstein BL, Nelson BW, Xu K et al. Regulator of G protein signaling protein suppression of Galphao protein-mediated alpha2A adrenergic receptor inhibition of mouse hippocampal CA3 epileptiform activity. Mol Pharmacol 2009; 75:1222-30.

Görnemann T, Jähnichen S, Schurad B et al. Pharmacological properties of a wide array of ergolines at functional alpha(1)-adrenoceptor subtypes. Naunyn Schmiedebergs Arch Pharmacol 2008; 376:321-30.

Gribble FM. Alpha2A-adrenergic receptors and type 2 diabetes. N Engl J Med 2010; 362:361-2.

Gupta MK, Papay RS, Jurgens CW et al. alpha1-Adrenergic receptors regulate neurogenesis and gliogenesis. Mol Pharmacol 2009; 76:314-26.

Karahalil B, Coskun E, Emerce E. ADRA2A polymorphism and smoking in a Turkish population. Toxicol Ind Health 2008; 24:171-6.

Kebir O, Tabbane K, Sengupta S, Joober R. Candidate genes and neuropsychological phenotypes in children with ADHD: review of association studies. J Psychiatry Neurosci 2009; 34:88-101.

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Li JL, Canham RM, Vongpatanasin W, Leonard D, Auchus RJ, Victor RG. Do allelic variants in alpha2A and alpha2C adrenergic receptors predispose to hypertension in blacks? Hypertension 2006; 47:1140-6.

Liggett SB. alpha2A-adrenergic receptors in the genetics, pathogenesis, and treatment of type 2 diabetes. Sci Transl Med 2009; 1:12-5.

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Perroud N, Aitchison KJ, Uher R et al. Genetic predictors of increase in suicidal ideation during antidepressant treatment in the GENDEP project. Neuropsychopharmacology 2009; 34:2517-28.

Philipp M, Brede ME, Hadamek K, Gessler M, Lohse MJ, Hein L. Placental alpha-2-adrenoceptors control vascular development at the interface between mother and embryo. Nat Genet 2002; 31:311-5.

Polanczyk G, Zeni C, Genro JP et al. Association of the adrenergic alpha2A receptor gene with methylphenidate improvement of inattentive symptoms in children and adolescents with attention-deficit/hyperactivity disorder. Arch Gen Psychiatry 2007; 64:218-24.

Prestes AP, Marques FZ, Hutz MH, Roman T, Bau CH. Tobacco smoking and the ADRA2A C-1291G polymorphism. J Neural Transm 2007; 114:1503-6.

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Rosengren AH, Jokubka R, Tojjar D et al. Overexpression of alpha2A-adrenergic receptors contributes to type 2 diabetes. Science 2010; 327:217-20.

Sallinen J, Haapalinna A, Viitamaa T, Kobilka BK, Scheinin M. Adrenergic alpha2C-receptors modulate the acoustic startle reflex, prepulse inhibition, and aggression in mice. J Neurosci 1998; 18:3035-42.

Savontaus E, Fagerholm V, Rahkonen O, Scheinin M. Reduced blood glucose levels, increased insulin levels and improved glucose tolerance in alpha2A-adrenoceptor knockout mice. Eur J Pharmacol 2008; 578:359-64.

Scahill L. Alpha-2 adrenergic agonists in children with inattention, hyperactivity and impulsiveness. CNS Drugs 2009; 23 Suppl 1:43-9.

Schmitz M, Denardin D, Silva TL et al. Association between alpha-2a-adrenergic receptor gene and ADHD inattentive type. Biol Psychiatry 2006; 60:1028-33.

Sikander A, Rana SV, Sharma SK et al. Association of alpha 2A adrenergic receptor gene (ADRAlpha2A) polymorphism with irritable bowel syndrome, microscopic and ulcerative colitis. Clin Chim Acta 2010; 411:59-63.

Small KM, Brown KM, Seman CA, Theiss CT, Liggett SB. Complex haplotypes derived from noncoding polymorphisms of the intronless alpha2A-adrenergic gene diversify receptor expression. Proc Natl Acad Sci USA 2006; 103:5472-7.

Tsai SJ, Wang YC, Yu Younger WY, Lin CH, Yang KH, Hong CJ. Association analysis of polymorphism in the promoter region of the alpha2a-adrenoceptor gene with schizophrenia and clozapine response. Schizophr Res 2001; 49:53-8.

Ukkola O, Pérusse L, Chagnon YC, Després JP, Bouchard C. Interactions among the glucocorticoid receptor, lipoprotein lipase and adrenergic receptor genes and abdominal fat in the Québec Family Study. Int J Obes Relat Metab Disord 2001; 25:1332-9.

Ukkola O, Rankinen T, Weisnagel SJ et al C. Interactions among the alpha2-, beta2-, and beta3-adrenergic receptor genes and obesity-related phenotypes in the Quebec Family Study. Metabolism 2000; 49:1063-70.

Wakeno M, Kato M, Okugawa G et al. The alpha 2A-adrenergic receptor gene polymorphism modifies antidepressant responses to milnacipran. J Clin Psychopharmacol 2008; 28:518-24.

Waldman ID, Nigg JT, Gizer IR, Park L, Rappley MD, Friderici K. The adrenergic receptor alpha-2A gene (ADRA2A) and neuropsychological executive functions as putative endophenotypes for childhood ADHD. Cogn Affect Behav Neurosci 2006; 6:18-30.

Wess J. More is not always better: alpha2A-adrenoceptor expression in type 2 diabetes. Cell Metab 2010; 11:3-5.

Woodcock EA. Roles of alpha1A- and alpha1B-adrenoceptors in heart: insights from studies of genetically modified mice. Clin Exp Pharmacol Physiol 2007; 34:884-8.

Xu C, Schachar R, Tannock R et al. Linkage study of the alpha2A adrenergic receptor in attention-deficit hyperactivity disorder families. Am J Med Genet 2001; 105:159-62.

Xu J, He J, Castleberry AM, Balasubramanian S, Lau AG, Hall RA. Heterodimerization of alpha-2A- and beta-1-adrenergic receptors. J Biol Chem 2003; 278:10770-7.

Yağar S, Yavaş S, Karahalil B. The role of the ADRA2A C1291G genetic polymorphism in response to dexmedetomidine on patients undergoing coronary artery surgery. Mol Biol Rep 2011; 38:3383-9.

Yamaguchi W, Shinkai T, Inoue Y et al. Association analysis between the C-1291G polymorphism in the promoter region of the adrenergic alpha2A receptor gene and polydipsia in schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry 2009; 33:499-502.

Yanpallewar SU, Fernandes K, Marathe SV et al. Alpha2-adrenoceptor blockade accelerates the neurogenic, neurotrophic, and behavioral effects of chronic antidepressant treatment. J Neurosci 2010; 30:1096-109.

ADRA2C (adrenergic, alpha-2C-, receptor)

Bristow MR, Murphy GA, Krause-Steinrauf H et al. An alpha2C-adrenergic receptor polymorphism alters the norepinephrine-lowering effects and therapeutic response of the beta-blocker bucindolol in chronic heart failure. Circ Heart Fail 2010; 3:21-8.

Cho SC, Kim JW, Kim BN et al. Association between the alpha-2C-adrenergic receptor gene and attention deficit hyperactivity disorder in a Korean sample. Neurosci Lett 2008; 446:108-11.

Comings DE, Gade-Andavolu R, Gonzalez N, Blake H, Wu S, MacMurray JP. Additive effect of three noradrenergic genes (ADRA2a, ADRA2C, DBH) on attention-deficit hyperactivity disorder and learning disabilities in Tourette syndrome subjects. Clin Genet 1999; 55:160-72.

Davies MF, Tsui JY, Flannery JA, Li X, DeLorey TM, Hoffman BB. Augmentation of the noradrenergic system in alpha-2 adrenergic receptor deficient mice: anatomical changes associated with enhanced fear memory. Brain Res 2003; 986:157-65.

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Devedjian JC, Pujol A, Cayla C et al. Transgenic mice overexpressing alpha2A-adrenoceptors in pancreatic beta-cells show altered regulation of glucose homeostasis. Diabetologia 2000; 43:899-906.

Du Preez J, Matolweni LO, Greenberg J, Mntla P, Adeyemo AA, Mayosi BM. The alpha 2C Del322-325 adrenergic receptor polymorphism is not associated with heart failure due to idiopathic dilated cardiomyopathy in black Africans. Cardiovasc J Afr 2008; 19:15-6.

Feng J, Zheng J, Gelernter J et al. An in-frame deletion in the alpha(2C) adrenergic receptor is common in African-Americans. Mol Psychiatry 2001; 6:168-72.

Goldenstein BL, Nelson BW, Xu K et al. Regulator of G protein signaling protein suppression of Galphao protein-mediated alpha2A adrenergic receptor inhibition of mouse hippocampal CA3 epileptiform activity. Mol Pharmacol 2009; 75:1222-30.

Gravlee CC, Non AL, Mulligan CJ. Genetic ancestry, social classification, and racial inequalities in blood pressure in Southeastern Puerto Rico. PLoS One 2009. doi:10. 1371/journal. pone. 0006821.

Gupta MK, Papay RS, Jurgens CW et al. alpha1-Adrenergic receptors regulate neurogenesis and gliogenesis. Mol Pharmacol 2009; 76:314-26.

Kitsios G, Zintzaras E. Genetic variation associated with ischemic heart failure: a HuGE review and meta-analysis. Am J Epidemiol 2007; 166:619-33.

Kurnik D, Friedman EA, Muszkat M et al. Genetic variants in the alpha2C-adrenoceptor and G-protein contribute to ethnic differences in cardiovascular stress responses. Pharmacogenet Genomics 2008; 18:743-50.

Kurnik D, Muszkat M, Friedman EA et al. Effect of the alpha2C-adrenoreceptor deletion322-325 variant on sympathetic activity and cardiovascular measures in healthy subjects. J Hypertens 2007; 25:763-71.

Li JL, Canham RM, Vongpatanasin W, Leonard D, Auchus RJ, Victor RG. Do allelic variants in alpha2A and alpha2C adrenergic receptors predispose to hypertension in blacks? Hypertension 2006; 47:1140-6.

Lobmeyer MT, Gong Y, Terra SG et al. Synergistic polymorphisms of beta-1 and alpha-2C-adrenergic receptors and the influence on left ventricular ejection fraction response to beta-blocker therapy in heart failure. Pharmacogenet Genomics 2007; 17:277-82. Small KM, Wagoner LE, Levin AM, Kardia SLR, Liggett SB. Synergistic polymorphisms of beta-1- and alpha-2C-adrenergic receptors and the risk of congestive heart failure. New Eng J Med 2002; 347:1135-42.

Regitz-Zagrosek V, Hocher B, Bettmann M et al. Alpha2C-adrenoceptor polymorphism is associated with improved event-free survival in patients with dilated cardiomyopathy. Eur Heart J 2006; 27:454-9.

Sallinen J, Haapalinna A, Viitamaa T, Kobilka BK, Scheinin M. Adrenergic alpha2C-receptors modulate the acoustic startle reflex, prepulse inhibition, and aggression in mice. J Neurosci 1998; 18:3035-42.

Savva J, Maqbool A, White HL et al. Polymorphisms of adrenoceptors are not associated with an increased risk of adverse event in heart failure: a MERIT-HF substudy. J Card Fail 2009; 15:435-41.

Small KM, Mialet-Perez J, Seman CA, Theiss CT, Brown KM, Liggett SB. Polymorphisms of cardiac presynaptic alpha2C adrenergic receptors: Diverse intragenic variability with haplotype-specific functional effects. Proc Natl Acad Sci USA 2004; 101:13020-5.

Woodcock EA. Roles of alpha1A- and alpha1B-adrenoceptors in heart: insights from studies of genetically modified mice. Clin Exp Pharmacol Physiol 2007; 34:884-8.

ADRB1 (adrenergic, beta-1-, receptor)

Ahles A, Engelhardt S. Polymorphisms determine beta-adrenoceptor conformation: implications for cardiovascular disease and therapy. Trends Pharmacol Sci 2009; 30:188-93.

Aquilante CL, Yarandi HN, Cavallari LH et al. Beta-adrenergic receptor gene polymorphisms and hemodynamic response to dobutamine during dobutamine stress echocardiography. Pharmacogenomics J 2008; 8:408-15.

Azuma J, Nonen S. Chronic heart failure: beta-blockers and pharmacogenetics. Eur J Clin Pharmacol 2009; 65:3-17.

Bachman ES, Dhillon H, Zhang CY et al. Beta-AR signaling required for diet-induced thermogenesis and obesity resistance. Science 2002; 297:843-5.

Baudhuin LM, Miller WL, Train L et al. Relation of ADRB1, CYP2D6, and UGT1A1 polymorphisms with dose of, and response to, carvedilol or metoprolol therapy in patients with chronic heart failure. Am J Cardiol 2010; 106:402-8.

Beitelshees AL, Zineh I, Yarandi HN, Pauly DF, Johnson JA. Influence of phenotype and pharmacokinetics on beta-blocker drug target pharmacogenetics. Pharmacogenomics J 2006; 6:174-8.

Bengtsson K, Melander O, Orho-Melander M et al. Polymorphism in the beta(1)-adrenergic receptor gene and hypertension. Circulation 2001; 104:187-90.

Biolo A, Clausell N, Santos KG et al. Impact of beta1-adrenergic receptor polymorphisms on susceptibility to heart failure, arrhythmogenesis, prognosis, and response to beta-blocker therapy. Am J Cardiol 2008; 102:726-32.

Brodde OE. Beta1- and beta2-adrenoceptor polymorphisms and cardiovascular diseases. Fundam Clin Pharmacol 2008; 22:107-25.

Brooks AM, Gillies WE. Ocular beta-blockers in glaucoma management. Clinical pharmacological aspects. Drugs Aging 1992; 2:208-21.

Chen L, Meyers D, Javorsky G et al. Arg389Gly-beta1-adrenergic receptors determine improvement in left ventricular systolic function in nonischemic cardiomyopathy patients with heart failure after chronic treatment with carvedilol. Pharmacogenet Genomics 2007; 17:941-9.

de George BR Jr, Koch WJ. Beta blocker specificity: a building block toward personalized medicine. J Clin Invest 2007; 117:86-9.

de Groote P, Ennezat PV, Mouquet F. Bisoprolol in the treatment of chronic heart failure. Vasc Health Risk Manag 2007; 3:431-9.

de Groote P, Helbecque N, Lamblin N et al. Association between beta-1 and beta-2 adrenergic receptor gene polymorphisms and the response to beta-blockade in patients with stable congestive heart failure. Pharmacogenet Genomics 2005; 15:137-42.

Dionne IJ, Garant MJ, Nolan AA et al. Association between obesity and a polymorphism in the beta(1)-adrenoceptor gene (Gly389Arg ADRB1) in Caucasian women. Int J Obes Relat Metab Disord 2002; 26:633-9.

Dorn GW 2nd, Liggett SB. Pharmacogenomics of beta-adrenergic receptors and their accessory signaling proteins in heart failure. Clin Transl Sci 2008; 1:255-62.

Dulin B, Abraham WT. Pharmacology of carvedilol. Am J Cardiol 2004; 93:3-6.

Ellis CE, Frielle T. Characterization of two human beta-1-adrenergic receptor transcripts: cloning and alterations in the failing heart. Biochem Biophys Res Commun 1999; 258:552-8.

Ellsworth DL, Coady SA, Chen W, Srinivasan SR, Boerwinkle E, Berenson GS. Interactive effects between polymorphisms in the beta-adrenergic receptors and longitudinal changes in obesity. Obes Res 2005; 13:519-26.

Fajardo G, Zhao M, Powers J, Bernstein D. Differential cardiotoxic/cardioprotective effects of beta-adrenergic receptor subtypes in myocytes and fibroblasts in doxorubicin cardiomyopathy. J Mol Cell Cardiol 2006; 40:375-83.

Filigheddu F, Argiolas G, Degortes S et al. Haplotypes of the adrenergic system predict the blood pressure response to beta-blockers in women with essential hypertension. Pharmacogenomics 2010; 11:319-25.

Forleo C, Sorrentino S, Guida P et al. Beta1- and beta2-adrenergic receptor polymorphisms affect susceptibility to idiopathic dilated cardiomyopathy. J Cardiovasc Med 2007; 8:589-95.

Fragoso JM, Rodríguez-Pérez JM, González J et al. Beta1-adrenergic receptor gene polymorphisms in Mexican patients with idiopathic dilated cardiomyopathy. Exp Mol Pathol 2006; 80:279-82.

Gjesing AP, Andersen G, Albrechtsen A et al. Studies of associations between the Arg389Gly polymorphism of the beta1-adrenergic receptor gene (ADRB1) and hypertension and obesity in 7677 Danish white subjects. Diabet Med 2007; 24:392-7.

Han RQ, Ouyang YB, Xu L, Agrawal R, Patterson AJ, Giffard RG. Postischemic brain injury is attenuated in mice lacking the beta2-adrenergic receptor. Anesth Analg 2009; 108:280-7.

Hu H, Jui HY, Hu FC, Chen YH, Lai LP, Lee CM. Predictors of therapeutic response to beta-blockers in patients with heart failure in Taiwan. J Formos Med Assoc 2007; 106:641-8.

Iwai C, Akita H, Kanazawa K et al. Arg389Gly polymorphism of the human beta1-adrenergic receptor in patients with nonfatal acute myocardial infarction. Am Heart J 2003; 146:106-9.

Iwai C, Akita H, Shiga N et al. Suppressive effect of the Gly389 allele of the 1-adrenergic receptor gene on the occurrence of ventricular tachycardia in dilated cardiomyopathy. Circ J 2002; 66:723-8.

Johnson JA, Terra SG. Beta-adrenergic receptor polymorphisms: cardiovascular disease associations and pharmacogenetics. Pharm Res 2002; 19:1779-87.

Johnson JA, Zineh I, Puckett BJ, McGorray SP, Yarandi HN, Pauly DF. Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol. Clin Pharmacol Ther 2003; 74:44-52.

Kanki H, Yang P, Xie HG, Kim RB, George AL Jr, Roden DM. Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. J Cardiovasc Electrophysiol 2002; 13:252-6.

Kannel WB, Kannel C, Paffenbarger RS, Cupples LA. Heart rate and cardiovascular mortality: the Framingham Study. Am Heart J 1987; 113:1489-94.

Kiriazis H, Wang K, Xu Q et al. Knockout of beta(1)- and beta(2)-adrenoceptors attenuates pressure overload-induced cardiac hypertrophy and fibrosis. Br J Pharmacol 2008; 153:684-92.

Kitsios G, Zintzaras E. Genetic variation associated with ischemic heart failure: a HuGE review and meta-analysis. Am J Epidemiol 2007; 166:619-33.

Kitsios GD, Zintzaras E. Synopsis and data synthesis of genetic association studies in hypertension for the adrenergic receptor family genes: the CUMAGAS-HYPERT database. Am J Hypertens 2010; 23:305-13.

Kurnik D, Li C, Sofowora GG et al. Beta-1-adrenoceptor genetic variants and ethnicity independently affect response to beta-blockade. Pharmacogenet Genomics 2008; 18:895-902.

la Rosée K, Huntgeburth M, Rosenkranz S, Böhm M, Schnabel P. The Arg389Gly beta1-adrenoceptor gene polymorphism determines contractile response to catecholamines. Pharmacogenetics 2004; 14:711-6.

Lanfear DE, Marsh S, Cresci S, Spertus JA, McLeod HL. Frequency of compound genotypes associated with beta-blocker efficacy in congestive heart failure. Pharmacogenomics 2004; 5:553-8.

Lattion A, Abuin L, Nenniger-Tosato M, Cotecchia S. Constitutively active mutants of the beta1-adrenergic receptor. FEBS Lett 1999; 457:302-6.

Leineweber K, Bogedain P, Wolf C et al. In patients chronically treated with metoprolol, the demand of inotropic catecholamine support after coronary artery bypass grafting is determined by the Arg389Gly-beta 1-adrenoceptor polymorphism. Naunyn Schmiedebergs Arch Pharmacol 2007; 375:303-9.

Leineweber K, Bruck H, Temme T, Heusch G, Philipp T, Brodde OE. The Arg389Gly beta1-adrenoceptor polymorphism does not affect cardiac effects of exercise after parasympathetic inhibition by atropine. Pharmacogenet Genomics 2006; 16:9-13.

Leineweber K, Frey UH, Tenderich G et al. The Arg16Gly-β(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure. Naunyn Schmiedebergs Arch Pharmacol 2010; 382:357-65.

Leineweber K, Heusch G. Beta 1- and beta 2-adrenoceptor polymorphisms and cardiovascular diseases. Br J Pharmacol 2009; 158:61-9.

Lemaitre RN, Heckbert SR, Sotoodehnia N et al. beta1- and beta2-adrenergic receptor gene variation, beta-blocker use and risk of myocardial infarction and stroke. Am J Hypertens 2008; 21:290-6.

Liggett SB, Mialet-Perez J, Thaneemit-Chen S et al. A polymorphism within a conserved beta-1-adrenergic receptor motif alters cardiac function and beta-blocker response in human heart failure. Proc Nat Acad Sci USA 2006; 103:11288-93.

Liggett SB. Pharmacogenomics of beta1-adrenergic receptor polymorphisms in heart failure. Heart Fail Clin 2010; 6:27-33.

Liu J, Liu ZQ, Tan ZR et al. Gly389Arg polymorphism of beta1-adrenergic receptor is associated with the cardiovascular response to metoprolol. Clin Pharmacol Ther 2003; 74:372-9.

Liu J, Liu ZQ, Yu BN et al. beta1-Adrenergic receptor polymorphisms influence the response to metoprolol monotherapy in patients with essential hypertension. Clin Pharmacol Ther 2006; 80:23-32.

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Lommatzsch M, Lindner Y, Edner A, Bratke K, Kuepper M, Virchow JC. Adverse effects of salmeterol in asthma: a neuronal perspective. Thorax 2009; 64:763-9.

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Martinez FD, Graves PE, Baldini M, Solomon S, Erickson R. Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest 1997; 100:3184-8.

McLaren N, Reed DM, Musch DC et al. Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations. Arch Ophthalmol 2007; 125:105-11.

McNamara DM, MacGowan GA, London B. Clinical importance of beta-adrenoceptor polymorphisms in cardiovascular disease. Am J Pharmacogenomics 2002; 2:73-8.

Migita O, Noguchi E, Jian Z et al. ADRB2 polymorphisms and asthma susceptibility: transmission disequilibrium test and meta-analysis. Int Arch Allergy Immunol 2004; 134:150-7.

Mokry M, Joppa P, Slaba E et al. Beta2-adrenergic receptor haplotype and bronchodilator response to salbutamol in patients with acute exacerbations of COPD. Med Sci Monit 2008; 14:392-8.

Molema J, Lammers JW, van Herwaarden CL, Folgering HT. Effects of inhaled beclomethasone dipropionate on beta 2-receptor function in the airways and adrenal responsiveness in bronchial asthma. Eur J Clin Pharmacol 1988; 34:577-83.

Molenaar P, Christ T, Ravens U, Kaumann A. Carvedilol blocks beta2- more than beta1-adrenoceptors in human heart. Cardiovasc Res 2006; 69:128-39.

Moore PE, Ryckman KK, Williams SM, Patel N, Summar ML, Sheller JR. Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma. Pediatr Pulmonol 2009; 44:649-54.

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Ni Y, Zhao X, Bao G et al. Activation of beta-2-adrenergic receptor stimulates gamma-secretase activity and accelerates amyloid plaque formation. Nat Med 2006; 12:1390-6.

Odley A, Hahn HS, Lynch RA et al. Regulation of cardiac contractility by Rab4-modulated beta-2-adrenergic receptor recycling. Proc Nat Acad Sci USA 2004; 101:7082-7.

Oomen JM, van Rossum CT, Hoebee B, Saris WH, van Baak MA. beta2-adrenergic receptor polymorphisms and salbutamol-stimulated energy expenditure. J Clin Endocrinol Metab 2005; 90:2301-7.

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Pacanowski MA, Zineh I, Li H et al. Adrenergic gene polymorphisms and cardiovascular risk in the NHLBI-sponsored Women’s Ischemia Syndrome Evaluation. J Transl Med 2008; 6:11.

Paczkowska A, Szperl M, Małek Ł et al. Polymorphisms of the beta-1 and beta-2 adrenergic receptors in Polish patients with idiopathic dilated cardiomyopathy. Kardiol Pol 2009; 67:235-41.

Park HS, Kim Y, Lee C. Single nucleotide variants in the beta2-adrenergic and beta3-adrenergic receptor genes explained 18. 3% of adolescent obesity variation. J Hum Genet 2005; 50:365-9.

Piscione F, Iaccarino G, Galasso G et al. Effects of Ile164 polymorphism of beta2-adrenergic receptor gene on coronary artery disease. J Am Coll Cardiol 2008; 52:1381-8.

Rasmussen SGF, Choi HJ, Rosenbaum D et al. Crystal structure of the human beta-2 adrenergic G-protein-coupled receptor. Nature 2007; 450:383-7.

Rogers AJ, Tantisira KG, Fuhlbrigge AL et al. Predictors of poor response during asthma therapy differ with definition of outcome. Pharmacogenomics 2009; 10:1231-42.

Rosenbaum DM, Cherezov V, Hanson MA et al. GPCR engineering yields high-resolution structural insights into beta-2-adrenergic receptor function. Science 2007; 318:1266-73.

Sauer M. Re: Beta1 and beta2-adrenergic receptor polymorphisms and idiopathic ventricular arrhythmias. J Cardiovasc Electrophysiol 2008; 19:55.

Sears MR, Lötvall J. Past, present and future-beta2-adrenoceptor agonists in asthma management. Respir Med 2005; 99:152-70.

Sehnert AJ, Daniels SE, Elashoff M et al. Lack of association between adrenergic receptor genotypes and survival in heart failure patients treated with carvedilol or metoprolol. J Am Coll Cardiol 2008; 52:644-51.

Shin J, Johnson JA. Beta-blocker pharmacogenetics in heart failure. Heart Fail Rev 2010; 15:187-96.

Sims EJ, Jackson CM, Lipworth BJ. Add-on therapy with montelukast or formoterol in patients with the glycine-16 beta2-receptor genotype. Br J Clin Pharmacol 2003; 56:104-11.

Sims EJ, Lipworth BJ. Concomitant occasional use of salbutamol influences bronchoprotective responsiveness afforded by formoterol in patients with the glycine-16 genotype. Eur J Clin Pharmacol 2004; 59:791-5.

Small KM, McGraw DW, Liggett SB. Pharmacology and physiology of human adrenergic receptor polymorphisms. Annu Rev Pharmacol Toxicol 2003; 43:381-411.

Snyder EM, Beck KC, Dietz Nmet al. Arg16Gly polymorphism of the beta2-adrenergic receptor is associated with differences in cardiovascular function at rest and during exercise in humans. J Physiol 2006; 571:121-30.

Snyder EM, Johnson BD. Beta2-adrenergic receptor genotype and survival after acute coronary syndrome. JAMA 2006; 295:756-7.

Snyder EM, Turner ST, Johnson BD. Beta2-adrenergic receptor genotype and pulmonary function in patients with heart failure. Chest 2006; 130:1527-34.

Sotoodehnia N, Siscovick DS, Vatta M et al. Beta2-adrenergic receptor genetic variants and risk of sudden cardiac death. Circulation 2006; 113:1842-8.

Stanzione R, di Angelantonio E, Evangelista A et al. Beta2-adrenergic receptor gene polymorphisms and risk of ischemic stroke. Am J Hypertens 2007; 20:657-62.

Syamsu, Yusuf I, Budu, Patellongi I. The effect of polymorphism of the beta-2 adrenergic receptor on the response to beta-2 agonist in bronchial asthma patients. Acta Med Indones 2007; 39:8-12.

Tattersfield AE, Hall IP. Are beta2-adrenoceptor polymorphisms important in asthma-an unravelling story. Lancet 2004; 364:1464-6.

Taylor DR. Pharmacogenetics of beta2-agonist drugs in asthma. Clin Rev Allergy Immunol 2006; 31:247-58.

Taylor DR. beta-Adrenergic receptor polymorphisms: relationship to the beta-agonist controversy and clinical implications. Expert Opin Pharmacother 2007; 8:3195-203.

Taylor DR, Drazen JM, Herbison GP, Yandava CN, Hancox RJ, Town GI. Asthma exacerbations during long term beta agonist use: influence of beta(2) adrenoceptor polymorphism. Thorax 2000; 55:762-7.

Taylor DR, Epton MJ, Kennedy MA et al. Bronchodilator response in relation to beta2-adrenoceptor haplotype in patients with asthma. Am J Respir Crit Care Med 2005; 172:700-3.

Taylor DR, Kennedy MA. Genetic variation of the beta(2)-adrenoceptor: its functional and clinical importance in bronchial asthma. Am J Pharmacogenomics 2001; 1:165-74.

Troncoso R, Moraga F, Chiong M et al. Gln(27)→Glubeta(2)-adrenergic receptor polymorphism in heart failure patients: differential clinical and oxidative response to carvedilol. Basic Clin Pharmacol Toxicol 2009; 104:374-8.

Tsai HJ, Shaikh N, Kho JY et al. Study of African Americans, asthma, genes environments (SAGE): Beta-2-adrenergic receptor polymorphisms: pharmacogenetic response to bronchodilator among African American asthmatics. Hum Genet 2006; 119:547-57.

Tseng ZH, Aouizerat BE, Pawlikowska L et al. Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease. Heart Rhythm 2008; 5:814-21.

Turnes J, Hernández-Guerra M, Abraldes JG et al. Influence of beta-2 adrenergic receptor gene polymorphism on the hemodynamic response to propranolol in patients with cirrhosis. Hepatology 2006; 43:34-41.

Ulucan C, Cetintas V, Tetik A et al. Beta1 and beta2-adrenergic receptor polymorphisms and idiopathic ventricular arrhythmias. J Cardiovasc Electrophysiol 2008; 19:1053-8.

van Tilburg JH, Wijmenga C, van Bakel H, Rozeman L, Pearson PL, van Haeften TW. Relationship of beta2-adrenergic receptor polymorphism with obesity in type 2 diabetes. Diabetes Care 2003; 26:251-2.

van Veen A, Wierenga EA, Westland R et al. Limited beta2-adrenoceptor haplotypes display different agonist mediated airway responses in asthmatics. Respir Res 2006; 7:19.

Vardeny O, Detry MA, Moran JJ, Johnson MR, Sweitzer NK. The beta2 adrenergic receptor Gln27Glu polymorphism affects insulin resistance in patients with heart failure: possible modulation by choice of beta blocker. J Cardiovasc Pharmacol 2008; 52:500-6.

Wechsler ME, Kunselman SJ, Chinchilli VM et al. Effect of beta2-adrenergic receptor polymorphism on response to longacting beta2 agonist in asthma (LARGE trial): a genotype-stratified, randomised, placebo-controlled, crossover trial. Lancet 2009; 374:1754-64.

Wechsler ME, Lehman E, Lazarus SC et al. beta-Adrenergic receptor polymorphisms and response to salmeterol. Am J Respir Crit Care Med 2006; 173:519-26.

Wilk JB, Myers RH, Pankow JS et al. Adrenergic receptor polymorphisms associated with resting heart rate: the HyperGEN Study. Ann Hum Genet 2006; 70:566-73.

Wolk R, Snyder EM, Somers VK, Turner ST, Olson LJ, Johnson BD. Arginine 16 glycine beta2-adrenoceptor polymorphism and cardiovascular structure and function in patients with heart failure. J Am Soc Echocardiogr 2007; 20:290-7.

Xie HG, Stein CM, Kim RB et al. Human beta2-adrenergic receptor polymorphisms: no association with essential hypertension in black or white Americans. Clin Pharmacol Ther 2000; 67:670-5.

Yamada K, Ishiyama-Shigemoto S, Ichikawa F et al. Polymorphism in the 5-prime-leader cistron of the beta-2-adrenergic receptor gene associated with obesity and type 2 diabetes. J Clin Endocr Metab 1999; 84:1754-7.

Yamasaki Y, Kishimoto N, Ohnishi H et al. Beta 2-adrenoceptor polymorphism and effects of inhaled beta 2-stimulant (procaterol) and an anti-cholinergic drug (oxitropium) on the airway resistance. Nihon Kokyuki Gakkai Zasshi 2004; 42:239-46.

Yancey SW, Klotsman M, Ortega HG, Edwards LD, Anderson WH. Acute and chronic lung function responses to salmeterol and salmeterol plus fluticasone propionate in relation to Arg16Gly beta(2)-adrenergic polymorphisms. Curr Med Res Opin 2009; 25:1011-8.

Yilmaz A, Kaya MG, Merdanoglu U, Ergun MA, Cengel A, Menevse S. Association of beta-1 and beta-2 adrenergic receptor gene polymorphisms with myocardial infarction. J Clin Lab Anal 2009; 23:237-43.

York TP, Vargas-Irwin C, Anderson WH, van den Oord EJ. Asthma pharmacogenetic study using finite mixture models to handle drug-response heterogeneity. Pharmacogenomics 2009; 10:753-67.

Yu IW, Bukaveckas BL. Pharmacogenetic tests in asthma therapy. Clin Lab Med 2008; 28:645-65.

Yu SF, Zhou WH, Jiang KY, Gu GZ, Wang S. Job stress, gene polymorphism of beta2-AR, and prevalence of hypertension. Biomed Environ Sci 2008; 21:239-46.

Zak I, Sarecka-Hujar B, Krauze J. Cigarette smoking, carrier state of A or G allele of 46A>G and 79C>G polymorphisms of beta2-adrenergic receptor gene, and the risk of coronary artery disease. Kardiol Pol 2008; 66:380-6.

ADRB3 (adrenergic, beta-3-, receptor)

Arashiro R, Katsuren K, Fukuyama S, Ohta T. Effect of Trp64Arg mutation of the beta3-adrenergic receptor gene and C161T substitution of the peroxisome proliferator activated receptor gamma gene on obesity in Japanese children. Pediatr Int 2003; 45:135-41.

Belfer I, Buzas B, Evans C et al. Haplotype structure of the beta adrenergic receptor genes in US Caucasians and African Americans. Eur J Hum Genet 2005; 13:341-51.

Bracale R, Pasanisi F, Labruna G et al. Metabolic syndrome and ADRB3 gene polymorphism in severely obese patients from South Italy. Eur J Clin Nutr 2007; 61:1213-9.

Cecil JE, Palmer CN, Fischer B et al. Variants of the peroxisome proliferator-activated receptor gamma- and beta-adrenergic receptor genes are associated with measures of compensatory eating behaviors in young children. Am J Clin Nutr 2007; 86:167-73.

Corella D, Guillén M, Portolés O et al. Gender specific associations of the Trp64Arg mutation in the beta3-adrenergic receptor gene with obesity-related phenotypes in a Mediterranean population: interaction with a common lipoprotein lipase gene variation. J Intern Med 2001; 250:348-60.

de Luis DA, González Sagrado M, Aller R, Izaola O, Conde R. Influence of Trp64Arg polymorphism of beta 3-adrenoreceptor gene on insulin resistance, adipocytokines and weight loss secondary to two hypocaloric diets. Ann Nutr Metab 2009; 54:104-10.

Dunajska K, Lwow F, Milewicz A et al. beta(3)-adrenergic receptor polymorphism and metabolic syndrome in postmenopausal women. Gynecol Endocrinol 2008; 24:133-8.

Fan AZ, Yesupriya A, Chang MH et al. Gene polymorphisms in association with emerging cardiovascular risk markers in adult women. BMC Med Genet 2010; 11:6.

Frederiksen L, Brødbaek K, Fenger M et al. No interactions between polymorphisms in the beta3-adrenergic receptor gene and the PPAR-gamma gene on the risk of the insulin resistance syndrome in the Danish MONICA cohort. Diabetologia 2003; 46:729-31.

Gagnon J, Mauriège P, Roy S et al. The Trp64Arg mutation of the beta3 adrenergic receptor gene has no effect on obesity phenotypes in the Québec Family Study and Swedish Obese Subjects cohorts. J Clin Invest 1996; 98:2086-93.

Gjesing AP, Andersen G, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Association of the beta3-adrenergic receptor Trp64Arg polymorphism with common metabolic traits: studies of 7605 middle-aged white people. Mol Genet Metab 2008; 94:90-7.

Hao K, Peng S, Xing H et al. beta(3) Adrenergic receptor polymorphism and obesity-related phenotypes in hypertensive patients. Obes Res 2004; 12:125-30.

Kilpeläinen TO, Lakka TA, Laaksonen DE et al. Interaction of single nucleotide polymorphisms in ADRB2, ADRB3, TNF, IL6, IGF1R, LIPC, LEPR, and GHRL with physical activity on the risk of type 2 diabetes mellitus and changes in characteristics of the metabolic syndrome: The Finnish Diabetes Prevention Study. Metabolism 2008; 57:428-36.

Klass DM, Lauer N, Hay B, Kratzer W, Fuchs M; EMIL Study Group. Arg64 variant of the beta3-adrenergic receptor is associated with gallstone formation. Am J Gastroenterol 2007; 102:2482-7.

Kuriyama S, Shimazu T, Hozawa A et al. No effect of the Trp64Arg variant of the beta3-adrenergic receptor gene on weight loss by diet and exercise intervention among Japanese adults. Metabolism 2008; 57:1570-5.

Kurokawa N, Nakai K, Kameo S, Liu ZM, Satoh H. Association of BMI with the beta3-adrenergic receptor gene polymorphism in Japanese: meta-analysis. Obes Res 2001; 9:741-5.

Kurokawa N, Young EH, Oka Y et al. The ADRB3 Trp64Arg variant and BMI: a meta-analysis of 44 833 individuals. Int J Obes 2008; 32:1240-9.

Lima JJ, Feng H, Duckworth L et al. Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations. Metabolism 2007; 56:757-65.

Lin SY, Sheu WH, Lee WJ, Song YM, Chen YT. Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated with increased plasma leptin levels in obese Chinese women. Zhonghua Yi Xue Za Zhi 1999; 62:569-76.

Lwow F, Dunajska K, Tworowska U et al. Post-exercise oxidative stress and obesity in postmenopausal women: the role of beta3-adrenergic receptor polymorphism. Gynecol Endocrinol 2007; 23:597-603.

Marti A, Corbalán MS, Martínez-Gonzalez MA, Martinez JA. TRP64ARG polymorphism of the beta 3-adrenergic receptor gene and obesity risk: effect modification by a sedentary lifestyle. Diabetes Obes Metab 2002; 4:428-30.

Masuo K, Katsuya T, Fu Y, Rakugi H, Ogihara T, Tuck ML. Beta2- and beta3-adrenergic receptor polymorphisms are related to the onset of weight gain and blood pressure elevation over 5 years. Circulation 2005; 111:3429-34.

Matsushita Y, Yokoyama T, Yoshiike N et al. The Trp(64)Arg polymorphism of the beta(3)-adrenergic receptor gene is not associated with body weight or body mass index in Japanese: a longitudinal analysis. J Clin Endocrinol Metab 2003; 88:5914-20.

Melis MG, Secchi G, Brizzi P, Severino C, Maioli M, Tonolo G. The Trp64Arg beta3-adrenergic receptor amino acid variant confers increased sensitivity to the pressor effects of noradrenaline in Sardinian subjects. Clin Sci 2002; 103:397-402.

Mitchell BD, Cole SA, Comuzzie AG et al. A quantitative trait locus influencing BMI maps to the region of the beta-3 adrenergic receptor. Diabetes 1999; 48:1863-7.

Miyaki K, Sutani S, Kikuchi H et al. Increased risk of obesity resulting from the interaction between high energy intake and the Trp64Arg polymorphism of the beta3-adrenergic receptor gene in healthy Japanese men. J Epidemiol 2005; 15:203-10.

Morcillo S, Cardona F, Rojo-Martínez G et al. Effect of the combination of the variants -75G/A APOA1 and Trp64Arg ADRB3 on the risk of type 2 diabetes (DM2). Clin Endocrinol 2008; 68:102-7.

Morcillo S, Rojo-Martínez G, Martín-Núñez GM et al. Trp64Arg polymorphism of the ADRB3 gene predicts hyperuricemia risk in a population from southern Spain. J Rheumatol 2010; 37:417-21.

Morrison AC, Brancati FL, Folsom AR, Smith L, Boerwinkle E. Beta3-adrenergic receptor Trp64Arg polymorphism does not predict incident CHD or carotid intima-media thickness in a community-based sample of whites: the ARIC study. Atherosclerosis Risk in Communities. Hum Genet 1999; 105:314-9.

Oeveren van-Dybicz AM, Vonkeman HE, Bon MA, van den Bergh FA, Vermes I. Beta 3-adrenergic receptor gene polymorphism and type 2 diabetes in a Caucasian population. Diabetes Obes Metab 2001; 3:47-51.

Pacanowski MA, Zineh I, Li H et al. Adrenergic gene polymorphisms and cardiovascular risk in the NHLBI-sponsored Women’s Ischemia Syndrome Evaluation. J Transl Med 2008; 6:11.

Park HS, Kim Y, Lee C. Single nucleotide variants in the beta2-adrenergic and beta3-adrenergic receptor genes explained 18. 3% of adolescent obesity variation. J Hum Genet 2005; 50:365-9.

Rooyen JM, Pretorius PJ, Britz M et al. Genetic polymorphisms of beta2- and beta3-adrenergic receptor genes associated with characteristics of the metabolic syndrome in black South African women. Exp Clin Endocrinol Diabetes 2008; 116:236-40.

Santiago C, Ruiz JR, Buxens A et al. Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance. Br J Sports Med 2011; 45:147-9.

Schiffelers SL, Blaak EE, Saris WH, van Baak MA. In vivo beta3-adrenergic stimulation of human thermogenesis and lipid use. Clin Pharmacol Ther 2000; 67:558-66.

Shiwaku K, Nogi A, Anuurad E et al. Difficulty in losing weight by behavioral intervention for women with Trp64Arg polymorphism of the beta3-adrenergic receptor gene. Int J Obes Relat Metab Disord 2003; 27:1028-36.

Sidjanin DJ, McCarty CA, Patchett R, Smith E, Wilke RA. Pharmacogenetics of ophthalmic topical beta-blockers. Per Med 2008; 5:377-85.

Strazzullo P, Iacone R, Siani A et al. Relationship of the Trp64Arg polymorphism of the beta3-adrenoceptor gene to central adiposity and high blood pressure: interaction with age. Cross-sectional and longitudinal findings of the Olivetti Prospective Heart Study. J Hypertens 2001; 19:399-406.

Tamaki S, Nakamura Y, Tabara Y et al. Relationship between metabolic syndrome and Trp64arg polymorphism of the beta-adrenergic receptor gene in a general sample: the Shigaraki study. Hypertens Res 2006; 29:891-6.

Terra SG, McGorray SP, Wu R et al. Association between beta-adrenergic receptor polymorphisms and their G-protein-coupled receptors with body mass index and obesity in women: a report from the NHLBI-sponsored WISE study. Int J Obes 2005; 29:746-54.

Tsai SJ, Yu YW, Lin CH, Wang YC, Chen JY, Hong CJ. Association study of adrenergic beta3 receptor (Trp64Arg) and G-protein beta3 subunit gene (C825T) polymorphisms and weight change during clozapine treatment. Neuropsychobiology 2004; 50:37-40.

Ujike H, Nomura A, Morita Y et al. Multiple genetic factors in olanzapine-induced weight gain in schizophrenia patients: a cohort study. J Clin Psychiatry 2008; 69:1416-22.

Wang CY, Nguyen ND, Morrison NA, Eisman JA, Center JR, Nguyen TV. Beta3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES). BMC Med Genet 2006; 7:57.

Yamakita M, Ando D, Tang S, Yamagata Z. The Trp64Arg polymorphism of the beta3-adrenergic receptor gene is associated with weight changes in obese Japanese men: a 4-year follow-up study. J Physiol Anthropol 2010; 29:133-9.

Yang M, Huang Q, Wu J et al. Effects of UCP2 -866 G/A and ADRB3 Trp64Arg on rosiglitazone response in Chinese patients with Type 2 diabetes. Br J Clin Pharmacol 2009; 68:14-22.

Zafarmand MH, van der Schouw YT, Grobbee DE, de Leeuw PW, Bots ML. T64A polymorphism in beta3-adrenergic receptor gene (ADRB3) and coronary heart disease: a case-cohort study and meta-analysis. J Intern Med 2008; 263:79-89.

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acetyltransferase, beta))

Agarwal AK, Arioglu E, de Almeida S et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 2002; 31:21-3.

Agarwal AK, Barnes RI, Garg A. Genetic basis of congenital generalized lipodystrophy. Int J Obes Relat Metab Disord 2004; 28:336-9.

Agarwal AK, Garg A. Genetic basis of lipodystrophies and management of metabolic complications. Annu Rev Med 2006; 57:297-311.

Agarwal AK, Simha V, Oral EA et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab 2003; 88:4840-7.

Antuna-Puente B, Boutet E, Vigouroux C et al. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency. J Clin Endocrinol Metab 2010; 95:1463-8.

Capeau J, Magré J, Caron-Debarle M et al. Human lipodystrophies: genetic and acquired diseases of adipose tissue. Endocr Dev 2010; 19:1-20.

Capeau J, Magré J, Lascols O et al. Diseases of adipose tissue: genetic and acquired lipodystrophies. Biochem Soc Trans 2005; 33:1073-7.

Chan JL, Oral EA. Clinical classification and treatment of congenital and acquired lipodystrophy. Endocr Pract 2010; 16:310-23.

Cortés VA, Curtis DE, Sukumaran S et al. Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. Cell Metab 2009; 9:165-76.

Fu M, Kazlauskaite R, Baracho MdeF et al. Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. J Clin Endocr Metab 2004; 89:2916-22.

Gale SE, Frolov A, Han X et al. A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. J Biol Chem 2006; 281:11082-9.

Garg A, Agarwal AK. Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta 2009; 1791:507-13.

Gomes KB, Fernandes AP, Ferreira ACS et al. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocr Metab 2004; 89:357-61.

Gomes KB, Pardini VC, Ferreira AC, Fernandes AP. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. J Inherit Metab Dis 2005; 28:1123-31.

Haque W, Garg A, Agarwal AK. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. Biochem Biophys Res Commun 2005; 327:446-53.

Huang RS, Duan S, Bleibel WK et al. A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity. Proc Natl Acad Sci USA 2007; 104:9758-63.

Leung DW. The structure and functions of human lysophosphatidic acid acyltransferases. Front Biosci 2001; 6:944-53.

Magré J, Delépine M, van Maldergem L et al. Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes 2003; 52:1573-8.

Miranda DM, Wajchenberg BL, Calsolari MR et al. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. Clin Endocrinol 2009; 71:512-7.

Simha V, Garg A. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab 2003; 88:5433-7.

Subauste AR, Elliott B, Das AK, Burant CF. A role for 1-acylglycerol-3-phosphate-O-acyltransferase-1 in myoblast differentiation. Differentiation 2010; 80:140-6.

van Maldergem L. Berardinelli-Seip congenital lipodystrophy. In: Pagon RA, Bird TC, Dolan CR, Stephens K (Eds). GeneReviews. University of Washington, Seattle, 1993-2003. Available from: http://www. ncbi. nlm. nih. gov/books/NBK1212/

Vogel P, Read R, Hansen G et al. Pathology of congenital generalized lipodystrophy in Agpat2 -/-Mice. Vet Pathol 2011; 48:642-54.

AGT (angiotensinogen (serpin peptidase inhibitor, clade A, member 8))

Aggarwal PK, Jain V, Jha V. Endothelial nitric oxide synthase, angiotensin-converting enzyme and angiotensinogen gene polymorphisms in hypertensive disorders of pregnancy. Hypertens Res 2010; 33:473-7.

Ailhaud G, Fukamizu A, Massiera F, Negrel R, Saint-Marc P, Teboul M. Angiotensinogen, angiotensin II and adipose tissue development. Int J Obes Relat Metab Disord 2000; 24 Suppl 4:33-5.

Andreotti G, Boffetta P, Rosenberg PS et al. Variants in blood pressure genes and the risk of renal cell carcinoma. Carcinogenesis 2010; 31:614-20.

Argani H, Ghorbanihaghjo A, Aghaeishahsavari M et al. Effects of losartan and enalapril on high-sensitivity C-reactive protein and total antioxidant in renal transplant recipients with Renin-Angiotensin system polymorphisms. Transplant Proc 2008; 40:16-21.

Azizi M, Hallouin MC, Jeunemaitre X, Guyene TT, Menard J. Influence of the M235T polymorphism of human angiotensinogen (AGT) on plasma AGT and renin concentrations after ethinylestradiol administration. J Clin Endocr Metab 2000; 85:4331-7.

Baker M, Rahman T, Hall D et al. The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: a possible explanation for heterogeneity in genetic association studies of AGT and hypertension. Int J Epidemiol 2007; 36:1356-62.

Bantis C, Ivens K, Kreusser W et al. Influence of genetic polymorphisms of the renin-angiotensin system on IgA nephropathy. Am J Nephrol 2004; 24:258-67.

Barbalić M, Skarić-Jurić T, Cambien F et al. Gene polymorphisms of the renin-angiotensin system and early development of hypertension. Am J Hypertens 2006; 19:837-42.

Bengtsson K, Orho-Melander M, Lindblad U et al. Polymorphism in the angiotensin converting enzyme but not in the angiotensinogen gene is associated with hypertension and type 2 diabetes: the Skaraborg Hypertension and diabetes project. J Hypertens 1999; 17:1569-75.

Bhuiyan AR, Chen W, Srinivasan SR et al. G-6A polymorphism of angiotensinogen gene modulates the effect of blood pressure on carotid intima-media thickness. The Bogalusa Heart Study. Am J Hypertens 2007; 20:1073-8.

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AGTR1 (angiotensin II receptor, type 1)

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AGXT (alanine-glyoxylate aminotransferase)

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AHR (aryl hydrocarbon receptor)

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Le Beau MM, Carver LA, Espinosa R, Schmidt JV, Bradfield CA. Chromosomal localization of the human AHR locus encoding the structural gene for the Ah receptor to 7p21-p15. Cytogenet Cell Genet 1994; 66:172-6.

Lin GF, Ma QW, Zhang DS, Zha YL, Lou KJ, Shen JH. Polymorphism of alpha-estrogen receptor and aryl hydrocarbon receptor genes in dementia patients in Shanghai suburb. Acta Pharmacol Sin 2003; 24:651-6.

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AKR1C4 (aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4))

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ALAD (aminolevulinate dehydratase)

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ALDH1A1 (aldehyde dehydrogenase 1 family, member A1)

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ALDH2 (aldehyde dehydrogenase 2 family (mitochondrial))

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ALDH3A1 (aldehyde dehydrogenase 3 family, member A1)

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ALOX5 (arachidonate 5-lipoxygenase)

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AOX1 (aldehyde oxidase 1)

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APC (adenomatous polyposis coli)

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Wang X, Goode EL, Fredericksen ZS et al. Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2008; 17:2101-8.

Wang X, Imura T, Sofroniew MV, Fushiki S. Loss of adenomatous polyposis coli in Bergmann glia disrupts their unique architecture and leads to cell nonautonomous neurodegeneration of cerebellar Purkinje neurons. Glia 2011; 59:857-68.

Wong HL, Peters U, Hayes RB et al. Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk. Eur J Cancer 2010; 46:2457-66.

APOA1 (apolipoprotein A-I)

Fagan AM, Christopher E, Taylor JW et al. ApoAI deficiency results in marked reductions in plasma cholesterol but no alterations in amyloid-beta pathology in a mouse model of Alzheimer’s disease-like cerebral amyloidosis. Am J Pathol 2004; 165:1413-22.

Genschel J, Haas R, Propsting MJ, Schmidt HHJ. Apolipoprotein A-I induced amyloidosis. FEBS Lett 1998; 430:145-9.

Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD. A novel apolipoprotein A-1 variant, Arg173 to pro, associated with cardiac and cutaneous amyloidosis. Biochem Biophys Res Commun 1999; 257:584-8.

Kessling AM, Horsthemke B, Humphries SE. A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals. Clin Genet 1985; 28:296-306.

Lewis TL, Cao D, Lu H et al. Overexpression of human apolipoprotein A-I preserves cognitive function and attenuates neuroinflammation and cerebral amyloid angiopathy in a mouse model of Alzheimer disease. J Biol Chem 2010; 285:36958-68.

Nissen SE, Tsunoda T, Tuzcu EM et al. Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. JAMA 2003; 290:2292-300.

Obici L, Bellotti V, Mangione P et al. The new apolipoprotein A-I variant leu174-to-ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. Am J Pathol 1999; 155:695-702.

Ordovas JM, Schaefer EJ, Salem D et al. Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. New Eng J Med 1986; 314:671-7.

Sakata N, Hoshii Y, Nakamura T et al. Colocalization of apolipoprotein AI in various kinds of systemic amyloidosis. J Histochem Cytochem 2005; 53:237-42.

Shah PK, Yano J, Reyes O et al. High-dose recombinant apolipoprotein A-I(Milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein E-deficient mice: potential implications for acute plaque stabilization. Circulation 2001; 103:3047-50.

Yao X, Dai C, Fredriksson K et al. 5A, an apolipoprotein A-I mimetic peptide, attenuates the induction of house dust mite-induced asthma. J Immunol 2011; 186:576-83.

Zhang Y, Zanotti I, Reilly MP et al. Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo. Circulation 2003; 108:661-3.

APOA5 (apolipoprotein A-V)

Arnedo M, Taffé P, Sahli R et al. Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy. Pharmacogenet Genomics 2007; 17:755-64.

Cardona F, Guardiola M, Queipo-Ortuño MI, Murri M, Ribalta J, Tinahones FJ. The -1131T>C SNP of the APOA5 gene modulates response to fenofibrate treatment in patients with the metabolic syndrome: a postprandial study. Atherosclerosis 2009; 206:148-52.

Dallongeville J, Cottel D, Montaye M, Codron V, Amouyel P, Helbecque N. Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men. Int J Cardiol 2006; 106:152-6.

Grallert H, Sedlmeier EM, Huth C et al. APOA5 variants and metabolic syndrome in Caucasians. J Lipid Res 2007; 48:2614-21.

Havasi V, Szolnoki Z, Talián G et al. Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating triglyceride levels and confers susceptibility for development of ischemic stroke. J Mol Neurosci 2006; 29:177-83.

Hegele RA, Ban MR, Hsueh N et al. A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. Hum Mol Genet 2009; 18:4189-94.

Hegele RA, Pollex RL. Apolipoprotein A-V genetic variation and plasma lipoprotein response to fibrates. Arterioscler Thromb Vasc Biol 2007; 27:1224-7.

Hubacek JA, Adámková V, Prusikova M et al. Impact of apolipoprotein A5 variants on statin treatment efficacy. Pharmacogenomics 2009; 10:945-50.

Hubácek JA, Adámková V, Vrablík M et al. Apolipoprotein A5 in health and disease. Physiol Res 2009; 58 Suppl 2:101-9.

Járomi L, Csöngei V, Polgár N et al. Functional variants of glucokinase regulatory protein and apolipoprotein A5 genes in ischemic stroke. J Mol Neurosci 2010; 41:121-8.

Johansen CT, Wang J, Lanktree MB et al. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet 2010; 42:684-7.

Kisfali P, Mohás M, Maász A et al. Haplotype analysis of the apolipoprotein A5 gene in patients with the metabolic syndrome. Nutr Metab Cardiovasc Dis 2010; 20:505-11.

Lai CQ, Arnett DK, Corella D et al. Fenofibrate effect on triglyceride and postprandial response of apolipoprotein A5 variants: the GOLDN study. Arterioscler Thromb Vasc Biol 2007; 27:1417-25.

Lee KH, Kim OY, Lim HH, Lee YJ, Jang Y, Lee JH. Contribution of APOA5-1131C allele to the increased susceptibility of diabetes mellitus in association with higher triglyceride in Korean women. Metabolism 2010; 59:1583-90.

Liu Y, Ordovas JM, Gao G et al. Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the genetics of lipid-lowering drugs and diet network study. Pharmacogenet Genomics 2009; 19:161-9.

Matsunaga A, Arishima H, Niimura H et al. Strong linkage disequilibrium and association of -1131T>C and c. 553G>T polymorphisms of the apolipoprotein A5 gene with hypertriglyceridemia in a Japanese population. Circ J 2007; 71:746-52.

Pérez-Martínez P, Corella D, Shen J et al. Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states. Am J Clin Nutr 2009; 89:391-9.

Sarwar N, Sandhu MS, Ricketts SL et al. Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies. Lancet 2010; 375:1634-9.

Smith RC, Segman RH, Golcer-Dubner T, Pavlov V, Lerer B. Allelic variation in ApoC3, ApoA5 and LPL genes and first and second generation antipsychotic effects on serum lipids in patients with schizophrenia. Pharmacogenomics J 2008; 8:228-36.

Talmud PJ, Drenos F, Shah S et al. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am J Hum Genet 2009; 85:628-42.

Tarr PE, Telenti A. Toxicogenetics of antiretroviral therapy: genetic factors that contribute to metabolic complications. Antivir Ther 2007; 12:999-1013.

Wang J, Ban MR, Kennedy BA et al. APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia. Nat Clin Pract Cardiovasc Med 2008; 5:730-7.

Yamada Y, Ichihara S, Kato K et al. Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people. J Med Genet 2008; 45:22-8.

APOB (apolipoprotein B (including Ag(x) antigen))

Buroker NE, Ning XH, Zhou ZN et al. Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau. Clin Chim Acta 2010; 411:1466-73.

Kajinami K, Akao H, Polisecki E, Schaefer EJ. Pharmacogenomics of statin responsiveness. Am J Cardiol 2005; 96:65-70.

Liljedahl U, Kahan T, Malmqvist K et al. Single nucleotide polymorphisms predict the change in left ventricular mass in response to antihypertensive treatment. J Hypertens 2004; 22:2321-8.

Liljedahl U, Lind L, Kurland L, Berglund L, Kahan T, Syvänen AC. Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment. BMC Cardiovasc Disord 2004; 4:16.

Miltiadous G, Xenophontos S, Bairaktari E, Ganotakis M, Cariolou M, Elisaf M. Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia. Pharmacogenet Genomics 2005; 15:219-25.

Peterson MM, Mack JL, Hall PR et al. Apolipoprotein B Is an innate barrier against invasive Staphylococcus aureus infection. Cell Host Microbe 2008; 4:555-66.

Simon JA, Lin F, Hulley SB et al. Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. Am J Cardiol 2006; 97:843-50.

Wojczynski MK, Gao G, Borecki I et al. Apolipoprotein B genetic variants modify the response to fenofibrate: a GOLDN study. J Lipid Res 2010; 51:3316-23.

Zambon A, Brown BG, Hokanson JE, Motulsky AG, Brunzell JD. Genetically determined apo B levels and peak LDL density predict angiographic response to intensive lipid-lowering therapy. J Intern Med 2006; 259:401-9.

APOC3 (apolipoprotein C-III)

Arnedo M, Taffé P, Sahli R et al. Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy. Pharmacogenet Genomics 2007; 17:755-64.

Clemente-Postigo M, Queipo-Ortuño M, Valdivielso P, Tinahones FJ, Cardona F. Effect of apolipoprotein C3 and apolipoprotein A1 polymorphisms on postprandial response to a fat overload in metabolic syndrome patients. Clin Biochem 2010; 43:1300-4.

Gerritsen G, Rensen PC, Kypreos KE, Zannis VI, Havekes LM, Willems van Dijk K. ApoC-III deficiency prevents hyperlipidemia induced by apoE overexpression. J Lipid Res 2005; 46:1466-73.

Krawczyk M, Bonfrate L, Portincasa P. Nonalcoholic fatty liver disease. Best Pract Res Clin Gastroenterol 2010; 24:695-708.

Liu Y, Ordovas JM, Gao G et al. Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the genetics of lipid-lowering drugs and diet network study. Pharmacogenet Genomics 2009; 19:161-9.

APOD (apolipoprotein D)

Carter CJ. Convergence of genes implicated in Alzheimer’s disease on the cerebral cholesterol shuttle: APP, cholesterol, lipoproteins, and atherosclerosis. Neurochem Int 2007; 50:12-38.

Chen Y, Jia L, Wei C, Wang F, Lv H, Jia J. Association between polymorphisms in the apolipoprotein D gene and sporadic Alzheimer’s disease. Brain Res 2008; 1233:196-202.

Do Carmo S, Fournier D, Mounier C, Rassart E. Human apolipoprotein D overexpression in transgenic mice induces insulin resistance and alters lipid metabolism. Am J Physiol Endocrinol Metab 2009; 296:802-11.

Ganfornina MD, Do Carmo S, Lora JM et al. Apolipoprotein D is involved in the mechanisms regulating protection from oxidative stress. Aging Cell 2008; 7:506-15.

Hansen T, Hemmingsen RP, Wang AG et al. Apolipoprotein D is associated with long-term outcome in patients with schizophrenia. Pharmacogenomics J 2006; 6:120-5.

Helisalmi S, Hiltunen M, Vepsäläinen S et al. Genetic variation in apolipoprotein D and Alzheimer’s disease. J Neurol 2004; 251:951-7.

Walker DW, Muffat J, Rundel C, Benzer S. Overexpression of a Drosophila homolog of apolipoprotein D leads to increased stress resistance and extended lifespan. Curr Biol 2006; 16:674-9.

Zhang X, Li D, Duan S et al. Analysis of the association between Apolipoprotein D and schizophrenia. Neuropsychobiology 2006; 54:40-4.

APOE (apolipoprotein E)

Abrams AJ, Farooq A, Wang G. S-Nitrosylation of ApoE in Alzheimer’s disease. Biochemistry 2011; 50:3405-7.

Abramsson A, Landgren S, Zetterberg M et al. No association of LOXL1 gene polymorphisms with Alzheimer’s disease. Neuromolecular Med 2011; 13:160-6.

Adamson MM, Hutchinson JB, Shelton A, Wagner AD, Taylor JL. Reduced hippocampal activity during encoding in cognitively normal adults carrying the APOE ε4 allele. Neuropsychologia 2011; 49:2448-55.

Addante F, Sancarlo D, Copetti M et al. Effect of obesity, serum lipoproteins, and apolipoprotein e genotypes on mortality in hospitalized elderly patients. Rejuvenation Res 2011; 14:111-8.

Aerssens J, Raeymaekers P, Lilienfeld S, Geerts H, Konings F, Parys W. APOE genotype: no influence on galantamine treatment efficacy nor on rate of decline in Alzheimer’s disease. Dement Geriatr Cogn Disord 2001; 22:69-77.

Akuffo EL, Davis JB, Fox SM et al. The discovery and early validation of novel plasma biomarkers in mild-to-moderate Alzheimer’s disease patients responding to treatment with rosiglitazone. Biomarkers 2008; 13:618-36.

Albani D, Tettamanti M, Batelli S et al. Interleukin-1α, interleukin-1β and tumor necrosis factor-α genetic variants and risk of dementia in the very old: evidence from the “Monzino 80-plus” prospective study. Age (Dordr) 2011. doi:10. 1007/s11357-011-9249-x.

Albasanz-Puig A, Murray J, Preusch M et al. Oncostatin M is expressed in atherosclerotic lesions: A role for Oncostatin M in the pathogenesis of atherosclerosis. Atherosclerosis 2011; 216:292-8.

al-Chalabi A, Enayat ZE, Bakker MC et al. Association of apolipoprotein E e4 allele with bulbar-onset motor neuron disease. Lancet 1996; 347:159-60.

Alexopoulos P, Richter-Schmidinger T, Horn M et al. Hippocampal volume differences between healthy young Apolipoprotein E ε2 and ε4 carriers. J Alzheimers Dis 2011; 26:207-10.

Allen NC, Bagade S, McQueen MB et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008; 40:827-34.

Almkvist O, Jelic V, Amberla K, Hellstrom-Lindahl E, Meurling L, Norberg A. Responder characteristics to a single oral dose of cholinesterase inhibitor: a double-blind placebo-controlled study with tacrine in Alzheimer patients. Dement Geriatr Cogn Disord 2001; 12:22-32.

Altstiel LD, Greenberg DA, Marin D, Lantz M, Mohs R. Apolipoprotein E genotype and cognition in the very old. Lancet 1997; 349:1451.

Álvarez XA, Mouzo R, Pichel V et al. Double-blind placebo-controlled study with citicoline in APOE genotyped Alzheimer’s disease patients. Effects on cognitive performance, brain bioelectrical activity, and cerebral perfusion. Methods Find Exp Clin Pharmacol 1999; 21:633-44.

Álvarez XA, Pichel V, Pérez P et al. Double-blind, randomized, placebo-controlled pilot study with anapsos in senile dementia: effects on cognition, brain bioelectrical activity and cerebral hemodynamics. Methods Find Exp Clin Pharmacol 2000; 22:585-94.

Álvarez XA, Cacabelos R, Sampedro C et al. Efficacy and safety of Cerebrolysin in moderate to moderately severe Alzheimer’s disease: results of a randomized, double-blind, controlled trial investigating three dosages of Cerebrolysin. Eur J Neurol 2011; 18:59-68.

Amouyel P, Vidal O, Launay JM, Laplanche JL. The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease. The French Research Group on Epidemiology of Human Spongiform Encephalopathies. Lancet 1994; 344:1315-8.

Anderson DH, Ozaki S, Nealon M et al. Local cellular sources of apolipoprotein E in the human and retinal pigmented epithelium: implications for the process of drusen formation. Am J Ophthal 2001; 131:767-81.

Andres MA, Feger U, Nath A, Munsaka S, Jiang CS, Chang L. APOE ε4 allele and CSF APOE on cognition in HIV-infected subjects. J Neuroimmune Pharmacol 2011; 6:389-98.

Anthony IC, Norrby KE, Dingwall T et al. Predisposition to accelerated Alzheimer-related changes in the brains of human immunodeficiency virus negative opiate abusers. Brain 2010; 133:3685-98.

Apostolov EO, Ray D, Savenka AV, Shah SV, Basnakian AG. Chronic uremia stimulates LDL carbamylation and atherosclerosis. J Am Soc Nephrol 2010; 21:1852-7.

Aragonès G, Guardiola M, Barreda M et al. Measurement of serum PON-3 concentration: method evaluation, reference values, and influence of genotypes in a population-based study. J Lipid Res 2011; 52:1055-61.

Arai H, Higuchi S, Muramatsu T, Iwarsubo T, Sasaki H, Trojanowski Q. Apolipoprotein E gene in diffuse Lewy body disease with or without co-existing Alzheimer’s disease. Lancet 1994; 344:1307.

Araki S, Koya D, Makiishi T et al. APOE polymorphism and the progression of diabetic nephropathy in Japanese subjects with type 2 diabetes: results of a prospective observational follow-up study. Diabetes Care 2003; 26:2416-20.

Armstrong RA. Density and spatial pattern of β-amyloid (Aβ) deposits in corticobasal degeneration. Folia Neuropathol 2011; 49:14-20.

Arnedo M, Taffé P, Sahli R et al. Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy. Pharmacogenet Genomics 2007; 17:755-64.

Arnold SE, Joo E, Martinoli MG et al. Apoliprotein E genotype in schizophrenia: Frequency, age and onset, and neurophathological features. Neuroreport 1997; 8:1523-6.

Artico M, Riganò R, Buttari B et al. Protective role of parnaparin in reducing systemic inflammation and atherosclerotic plaque formation in ApoE-/- mice. Int J Mol Med 2011; 27:561-5.

Asada T, Kariya T, Yamagata Z, Kinoshita T, Asaka A. ApoE epsilon-4 and cognitive decline in patients with Alzheimer’s disease. Neurology 1996; 47:603.

Ashford JW. APOE genotype effects on Alzheimer’s disease onset and epidemiology. J Mol Neurosci 2004; 23:157-65.

Aulchenko YS, Ripatti S, Lindqvist I et al. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 2009; 41:47-55.

Avdesh A, Wong P, Martins RN, Martin-Iverson MT. Memory function in a mouse genetic model of Alzheimer’s disease. J Alzheimers Dis 2011; 25:433-44.

Bai N, Kido T, Suzuki H et al. Changes in atherosclerotic plaques induced by inhalation of diesel exhaust. Atherosclerosis 2011; 216:299-306.

Baird PN, Guida E, Chu DT, Vu HT, Guymer RH. The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 2004; 45:1311-5.

Baitsch D, Bock HH, Engel T et al. Apolipoprotein e induces antiinflammatory phenotype in macrophages. Arterioscler Thromb Vasc Biol 2011; 31:1160-8.

Baptista R, Rebelo M, Decq-Mota J et al. Apolipoprotein E epsilon-4 polymorphism is associated with younger age at referral to a lipidology clinic and a poorer response to lipid-lowering therapy. Lipids Health Dis 2011; 10:48.

Barberger-Gateau P, Samieri C, Féart C, Plourde M. Dietary Omega 3 polyunsaturated fatty acids and Alzheimer’s disease: interaction with Apolipoprotein E genotype. Curr Alzheimer Res 2011; 8:479-91.

Barthel H, Gertz HJ, Dresel S et al. Cerebral amyloid-β PET with florbetaben ((18)F) in patients with Alzheimer’s disease and healthy controls: a multicentre phase 2 diagnostic study. Lancet Neurol 2011; 10:424-35.

Baxter LC, Caselli RJ, Johnson SC, Reiman E, Osborne D. Apolipoprotein E epsilon4 affects new learning in cognitively normal individuals at risk for Alzheimer disease. Neurobiol Aging 2003; 24:947-52

Bayer AU, Keller ON, Ferrari F, Maag KP. Association of glaucoma with neurodegenerative diseases with apoptotic cell death: Alzheimer’s disease and Parkinson’s disease. Am J Ophthal 2002; 133:135-7.

Becker LE, Koleganova N, Piecha G et al. Effect of paricalcitol and calcitriol on aortic wall remodeling in uninephrectomized ApoE knockout mice. Am J Physiol Renal Physiol 2011; 300:772-82.

Becker RM, da Silva VK, Machado Fda S et al. Association between environmental quality, stress and APOE gene variation in fibromyalgia susceptibility determination. Rev Bras Reumatol 2010; 50:617-24.

Belbin O, Carrasquillo MM, Crump M et al. Investigation of 15 of the top candidate genes for late-onset Alzheimer’s disease. Hum Genet 2011; 129:273-82.

Benjamin R, Leake A, McArthur FK et al. Propective effect of apoE e2 in Alzheimer’s disease. Lancet 1994; 334:473-4.

Benn M, Tybjærg-Hansen A, Stender S, Frikke-Schmidt R, Nordestgaard BG. Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study. J Natl Cancer Inst 2011; 103:508-19.

Bennet AM, Reynolds CA, Eriksson UK et al. Genetic association of sequence variants near AGER/NOTCH4 and dementia. J Alzheimers Dis 2011; 24:475-84.

Bennet C, Crawford F, Osborne A et al. Evidence that the APOE locus influences rate of disease progression in late onset familial Alzheimer’s disease but is not causative. Am J Med Genet 1995; 60:1-6.

Bennett DA, Wilson RS, Schneider JA et al. Apolipoprotein E epsilon-4 allele, AD pathology, and the clinical expression of Alzheimer’s disease. Neurology 2003; 60:246-52.

Berbée JF, Vanmierlo T, Abildayeva K et al. Apolipoprotein CI knock-out mice display impaired memory functions. J Alzheimers Dis 2011; 23:567-98.

Bermúdez-Fajardo A, Oviedo-Orta E. Influenza vaccination promotes stable atherosclerotic plaques in apoE knockout mice. Atherosclerosis 2011; 217:97-105.

Bernstein RA, Gibbs M, Hunt Batjer H. Clinical diagnosis and successful treatment of inflammatory cerebral amyloid angiopathy. Neurocrit Care 2011; 14:453-5.

Betard C, Robitaille Y, Gee M et al. Apo E allele frequencies in Alzheimer’s disease, Lewy body dementia, Alzheimer’s disease with cerebrovascular disease and vascular dementia. Neuroreport 1994; 1893-6.

Beyer K, Lao JI, Álvarez XA, Cacabelos R. Different implications of APOE E4 in Alzheimer’s disease and vascular dementia in the Spanish population. Alzheimer Res 1996; 2:215-20.

Beyer K, Lao JI, Cacabelos R. Molecular genetics and genotyping in Alzheimer’s disease. Ann Psychiatry 1996; 6:173-87.

Bhaskar V, Yin J, Mirza AM et al. Monoclonal antibodies targeting IL-1 beta reduce biomarkers of atherosclerosis in vitro and inhibit atherosclerotic plaque formation in Apolipoprotein E-deficient mice. Atherosclerosis 2011; 216:313-20.

Bhattacharjee PS, Huq TS, Mandal TK et al. A novel peptide derived from human apolipoprotein E is an inhibitor of tumor growth and ocular angiogenesis. PLoS One. 2011. doi:10. 1371/journal. pone. 0015905.

Bien-Ly N, Andrews-Zwilling Y, Xu Q, Bernardo A, Wang C, Huang Y. C-terminal-truncated apolipoprotein (apo) E4 inefficiently clears amyloid-beta (Abeta) and acts in concert with Abeta to elicit neuronal and behavioral deficits in mice. Proc Natl Acad Sci USA 2011; 108:4236-41.

Biffi A, Sonni A, Anderson CD et al. Variants at APOE influence risk of deep and lobar intracerebral hemorrhage. Ann Neurol 2010; 68:934-43.

Bijland S, Rensen PC, Pieterman EJ et al. Perfluoroalkyl sulfonates cause alkyl chain length-dependent hepatic steatosis and hypolipidemia mainly by impairing lipoprotein production in APOE*3-Leiden. CETP mice. Toxicol Sci 2011; 123:290-303.

Biundo R, Gardini S, Caffarra P et al. Influence of APOE status on lexical-semantic skills in mild cognitive impairment. J Int Neuropsychol Soc 2011; 17:1-8.

Blasko I, Kemmler G, Jungwirth S et al. Prospective study on association between plasma amyloid beta-42 and atherosclerotic risk factors. J Neural Transm 2011; 118:663-72.

Bogachev O, Majdalawieh A, Pan X, Zhang L, Ro HS. AEBP1, a novel macrophage proinflammatory mediator, over-expression promotes and ablation attenuates atherosclerosis in ApoE(-)(/)(-) and LDLR(-)(/)(-) mice. Mol Med 2011; 17:1056-64.

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Bonomini F, Rodella LF, Moghadasian M, Lonati C, Coleman R, Rezzani R. Role of apolipoprotein E in renal damage protection. Histochem Cell Biol 2011; 135:571-9.

Borgaonkar DS, Schmidt LC, Martin SE et al. Linkage of late-onset Alzheimer’s disease with apolipoprotein E type 4 on chromosome 19. Lancet 1993; 342:625.

Borroni B, Grassi M, Archetti S et al. Genetic background predicts poor prognosis in frontotemporal lobar degeneration. Neurodegener Dis 2011; 8:289-95.

Bot I, Jukema JW, Lankhuizen IM, van Berkel TJ, Biessen EA. Atorvastatin inhibits plaque development and adventitial neovascularization in ApoE deficient mice independent of plasma cholesterol levels. Atherosclerosis 2011; 214:295-300.

Bouguerne B, Belkheiri N, Bedos-Belval F et al. Antiatherogenic effect of bisvanillyl-hydralazone, a new hydralazine derivative with antioxidant, carbonyl scavenger, and antiapoptotic properties. Antioxid Redox Signal 2011; 14:2093-106.

Bourquard N, Ng CJ, Reddy ST. Impaired hepatic insulin signalling in PON2-deficient mice: a novel role for the PON2/apoE axis on the macrophage inflammatory response. Biochem J 2011; 436:91-100.

Brecht WJ, Harris FM, Chang S et al. Neuron-specific apolipoprotein e4 proteolysis is associated with increased tau phosphorylation in brains of transgenic mice. J Neurosci 2004; 24:2527-34.

Brisson D, Ledoux K, Bossé Y et al. Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients. Pharmacogenetics 2002; 12:313-20.

Brito DD, Fernandes AP, Gomes KB et al. Apolipoprotein A5-1131T>C polymorphism, but not APOE genotypes, increases susceptibility for dyslipidemia in children and adolescents. Mol Biol Rep 2011; 38:4381-8.

Broderick J, Lu M, Jackson C et al. Apolipoprotein E, phenotype and the efficacy of intravenous tissue plasminogen activator in acute ischemic stroke. Ann Neurol 2001; 49:736-44.

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Brown B, Huang MH, Karlamangla A, Seeman T, Kado D. Do the effects of APOE-ε4 on cognitive function and decline depend upon vitamin status? MacArthur Studies of Successful Aging. J Nutr Health Aging 2011; 15:196-201.

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Busch RM, Floden D, Lineweaver TT et al. Effect of apolipoprotein ε4 allele on hippocampal and brain volume in intractable temporal lobe epilepsy. Epilepsy Behav 2011; 21:88-90.

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AR (androgen receptor)

Aschim EL, Nordenskjöld A, Giwercman A et al. Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene. J Clin Endocrinol Metab 2004; 89:5105-9.

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Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK. Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. J Clin Endocrinol Metab 2007; 92:4319-26.

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Ferlin A, Bartoloni L, Rizzo G, Roverato A, Garolla A, Foresta C. Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod 2004; 10:417-21.

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Giwercman A, Rylander L, Rignell-Hydbom A et al. Androgen receptor gene CAG repeat length as a modifier of the association between persistent organohalogen pollutant exposure markers and semen characteristics. Pharmacogenet Genomics 2007; 17:391-401.

Gottlieb B, Beitel LK, Wu JH, Trifiro M. The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat 2004; 23:527-33.

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Ingles SA, Ross RK, Yu MC et al. Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. J Natl Cancer Inst 1997; 89:166-70.

Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003; 24:41-8.

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Lim HN, Nixon RM, Chen H, Hughes IA, Hawkins JR. Evidence that longer androgen receptor polyglutamine repeats are a causal factor for genital abnormalities. J Clin Endocrinol Metab 2001; 86:3207-10.

Lindström S, Ma J, Altshuler D et al. A large study of androgen receptor germline variants and their relation to sex hormone levels and prostate cancer risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. J Clin Endocrinol Metab 2010; 95:121-7.

Lund A, Juvonen V, Lähdetie J, Aittomäki K, Tapanainen JS, Savontaus ML. A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men. Fertil Steril 2003; 79 Suppl 3:1647-8.

Lundin KB, Giwercman A, Richthoff J, Abrahamsson PA, Giwercman YL. No association between mutations in the human androgen receptor GGN repeat and inter-sex conditions. Mol Hum Reprod 2003; 9:375-9.

Mengual L, Oriola J, Ascaso C, Ballescà JL, Oliva R. An increased CAG repeat length in the androgen receptor gene in azoospermic ICSI candidates. J Androl 2003; 24:279-84.

Mo W, Zhang GG, Yang TL et al. The genetic polymorphisms of beta3-adrenergic receptor (AR) Trp64Arg and beta2-AR Gln27Glu are associated with obesity in Chinese male hypertensive patients. Clin Chem Lab Med 2007; 45:493-8.

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Newmark JR, Hardy DO, Tonb DC et al. Androgen receptor gene mutations in human prostate cancer. Proc Natl Acad Sci U S A 1992; 89:6319-23.

Palazzolo I, Gliozzi A, Rusmini P et al. The role of the polyglutamine tract in androgen receptor. J Steroid Biochem Mol Biol 2008; 108:245-53.

Radpour R, Rezaee M, Tavasoly A, Solati S, Saleki A. Association of long polyglycine tracts (GGN repeats) in exon 1 of the androgen receptor gene with cryptorchidism and penile hypospadias in Iranian patients. J Androl 2007; 28:164-9.

Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. No association of androgen receptor GGN repeat length polymorphism with infertility in Indian men. J Androl 2006; 27:785-9.

Rajender S, Singh L, Thangaraj K. Phenotypic heterogeneity of mutations in androgen receptor gene. Asian J Androl 2007; 9:147-79.

Rajpert-De Meyts E, Leffers H, Petersen JH et al. CAG repeat length in androgen-receptor gene and reproductive variables in fertile and infertile men. Lancet 2002; 359:44-6.

Rathnayake D, Sinclair R. Innovative use of spironolactone as an antiandrogen in the treatment of female pattern hair loss. Dermatol Clin 2010; 28:611-8.

Roy AK, Lavrovsky Y, Song CS et al. Regulation of androgen action. Vitam Horm 1999; 55:309-52.

Ruhayel Y, Lundin K, Giwercman Y, Halldén C, Willén M, Giwercman A. Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men. Hum Reprod 2004; 19:2076-83.

Saare M, Belousova A, Punab M et al. Androgen receptor gene haplotype is associated with male infertility. Int J Androl 2008; 31:395-402.

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Schildkraut JM, Murphy SK, Palmieri RT et al. Trinucleotide repeat polymorphisms in the androgen receptor gene and risk of ovarian cancer. Cancer Epidemiol Biomarkers Prev 2007; 16:473-80.

Schroder FH. Endocrine treatment of prostate cancer. Prostate Suppl 2000; 10:1.

Shi XB, Ma AH, Xia L, Kung HJ, de Vere White RW. Functional analysis of 44 mutant androgen receptors from human prostate cancer. Cancer Res 2002; 62:1496-502.

Silva Neto B, Koff WJ, Biolchi V et al. Polymorphic CAG and GGC repeat lengths in the androgen receptor gene and prostate cancer risk: analysis of a Brazilian population. Cancer Invest 2008; 26:74-80.

Singh R, Deepa SR, Madhavi S et al. Male infertility: no evidence of involvement of androgen receptor gene among Indian men. J Androl 2006; 27:102-5.

Stanford JL, Just JJ, Gibbs M et al. Polymorphic repeats in the androgen receptor gene: molecular markers of prostate cancer risk. Cancer Res 1997; 57:1194-8.

Tuohimaa P, Bläuer M, Pasanen S et al. Mechanisms of action of sex steroid hormones: basic concepts and clinical correlations. Maturitas 1996; 23:3-12.

Tut TG, Ghadessy FJ, Trifiro MA, Pinsky L, Yong EL. Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J Clin Endocrinol Metab 1997; 82:3777-82.

Vaishampayan U, Hussain M, Banerjee M et al. Lycopene and soy isoflavones in the treatment of prostate cancer. Nutr Cancer 2007; 59:1-7.

Wakisaka N, Taira Y, Ishikawa M et al. Effectiveness of finasteride on patients with male pattern baldness who have different androgen receptor gene polymorphism. J Investig Dermatol Symp Proc 2005; 10:293-4.

Wallerand H, Rémy-Martin A, Chabannes E, Bermont L, Adessi GL, Bittard H. Relationship between expansion of the CAG repeat in exon 1 of the androgen receptor gene and idiopathic male infertility. Fertil Steril 2001; 76:769-74.

Wilding G, Chen M, Gelmann EP. Aberrant response in vitro of hormone-responsive prostate cancer cells to antiandrogens. Prostate 1989; 14:103-15.

Yeh S, Miyamoto H, Shima H, Chang C. From estrogen to androgen receptor: a new pathway for sex hormones in prostate. Proc Natl Acad Sci U S A 1998; 95:5527-32.

Yeh SH, Chiu CM, Chen CL et al. Somatic mutations at the trinucleotide repeats of androgen receptor gene in male hepatocellular carcinoma. Int J Cancer 2007; 120:1610-7.

Yong EL, Lim J, Qi W, Ong V, Mifsud A. Molecular basis of androgen receptor diseases. Ann Med 2000; 32:15-22.

Yong EL, Loy CJ, Sim KS. Androgen receptor gene and male infertility. Hum Reprod Update 2003; 9:1-7.

Zhang X, Wang Q, Neil B, Chen X. Effect of lycopene on androgen receptor and prostate-specific antigen velocity. Chin Med J 2010; 123:2231-6.

Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL. Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab 2005; 90:5041-6.

Zitzmann M. Pharmacogenetics of testosterone replacement therapy. Pharmacogenomics 2009; 10:1341-9.

Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. Prostate volume and growth in testosterone-substituted hypogonadal men are dependent on the CAG repeat polymorphism of the androgen receptor gene: a longitudinal pharmacogenetic study. J Clin Endocrinol Metab 2003; 88:2049-54.

Zitzmann M, Nieschlag E. Androgen receptor gene CAG repeat length and body mass index modulate the safety of long-term intramuscular testosterone undecanoate therapy in hypogonadal men. J Clin Endocrinol Metab 2007; 92:3844-53.

ARG1 (arginase, liver)

Litonjua AA, Lasky-Su J, Schneiter K et al. ARG1 is a novel bronchodilator response gene: screening and replication in four asthma cohorts. Am J Respir Crit Care Med 2008; 178:688-94.

Pesce JT, Ramalingam TR, Mentink-Kane MM et al. Arginase-1-expressing macrophages suppress Th2 cytokine-driven inflammation and fibrosis. PLoS Pathog 2009. doi:10. 1371/journal. ppat. 1000371.

Yan X, Takahara M, Xie L et al. Arginine metabolism in soft tissue sarcoma. J Dermatol Sci 2011; 61:211-5.

AS3MT (arsenic (+3 oxidation state) methyltransferase)

Agusa T, Iwata H, Fujihara J et al. Genetic polymorphisms in AS3MT and arsenic metabolism in residents of the Red River Delta, Vietnam. Toxicol Appl Pharmacol 2009; 236:131-41.

Balakumar P, Kaur J. Arsenic exposure and cardiovascular disorders: an overview. Cardiovasc Toxicol 2009; 9:169-76.

Chen CJ, Hsu LI, Wang CH et al. Biomarkers of exposure, effect, and susceptibility of arsenic-induced health hazards in Taiwan. Toxicol Appl Pharmacol 2005; 206:198-206.

Chouchane S, Snow ET. In vitro effect of arsenical compounds on glutathione-related enzymes. Chem Res Toxicol 2001; 14:517-22.

Chung CJ, Hsueh YM, Bai CH et al. Polymorphisms in arsenic metabolism genes, urinary arsenic methylation profile and cancer. Cancer Causes Control 2009; 20:1653-61.

Crecelius EA. Changes in the chemical speciation of arsenic following ingestion by man. Environ Health Perspect 1977; 19:147-50.

Engström K, Vahter M, Mlakar SJ et al. Polymorphisms in arsenic(+III oxidation state) methyltransferase (AS3MT) predict gene expression of AS3MT as well as arsenic metabolism. Environ Health Perspect 2011; 119:182-8.

Fujihara J, Fujii Y, Agusa T et al. Ethnic differences in five intronic polymorphisms associated with arsenic metabolism within human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene. Toxicol Appl Pharmacol 2009; 234:41-6.

Fujihara J, Kunito T, Agusa T et al. Population differences in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene polymorphism detected by using genotyping method. Toxicol Appl Pharmacol 2007; 225:251-4.

Fujihara J, Soejima M, Koda Y, Kunito T, Takeshita H. Asian specific low mutation frequencies of the M287T polymorphism in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene. Mutat Res 2008; 654:158-61.

Fujihara J, Soejima M, Yasuda T et al. Global analysis of genetic variation in human arsenic (+3 oxidation state) methyltransferase (AS3MT). Toxicol Appl Pharmacol 2010; 243:292-9.

Gomez-Rubio P, Meza-Montenegro MM, Cantu-Soto E, Klimecki WT. Genetic association between intronic variants in AS3MT and arsenic methylation efficiency is focused on a large linkage disequilibrium cluster in chromosome 10. J Appl Toxicol 2010; 30:260-70.

Hernández A, Xamena N, Sekaran C et al. High arsenic metabolic efficiency in AS3MT287Thr allele carriers. Pharmacogenet Genomics 2008; 18:349-55.

Hernández A, Xamena N, Surrallés J et al. Role of the Met(287)Thr polymorphism in the AS3MT gene on the metabolic arsenic profile. Mutat Res 2008; 637:80-92.

Hughes MF. Arsenic methylation, oxidative stress and cancer-is there a link? J Natl Cancer Inst 2009; 101:1660-1.

Hwang YH, Chen YH, Su YN, Hsu CC, Chen YH, Yuan TH. Genetic polymorphism of As3MT and delayed urinary DMA excretion after organic arsenic intake from oyster ingestion. J Environ Monit 2010; 12:1247-54.

Jones KD, Huang WH. Evaluation of toxicity of the pesticides, chlorpyrifos and arsenic, in the presence of compost humic substances in aqueous systems. J Hazard Mater 2003; 103:93-105.

Lin S, del Razo LM, Styblo M, Wang C, Cullen WR, Thomas DJ. Arsenicals inhibit thioredoxin reductase in cultured rat hepatocytes. Chem Res Toxicol 2001; 14:305-11.

Lin S, Shi Q, Nix FB et al. A novel S-adenosyl-L-methionine:arsenic(III) methyltransferase from rat liver cytosol. J Biol Chem 2002; 277:10795-803.

Lindberg AL, Kumar R, Goessler W et al. Metabolism of low-dose inorganic arsenic in a central European population: influence of sex and genetic polymorphisms. Environ Health Perspect 2007; 115:1081-6.

Mass MJ, Tennant A, Roop BC et al. Methylated trivalent arsenic species are genotoxic. Chem Res Toxicol 2001; 14:355-61.

Meza M, Gandolfi AJ, Klimecki WT. Developmental and genetic modulation of arsenic biotransformation: a gene by environment interaction? Toxicol Appl Pharmacol 2007; 222:381-7.

Navas-Acien A, Sharrett AR, Silbergeld EK et al. Arsenic exposure and cardiovascular disease: a systematic review of the epidemiologic evidence. Am J Epidemiol 2005; 162:1037-49.

Petrick JS, Ayala-Fierro F, Cullen WR, Carter DE, Vasken Aposhian H. Monomethylarsonous acid (MMA(III)) is more toxic than arsenite in Chang human hepatocytes. Toxicol Appl Pharmacol 2000; 163:203-7.

Petrick JS, Jagadish B, Mash EA, Aposhian HV. Monomethylarsonous acid (MMA(III)) and arsenite: LD(50) in hamsters and in vitro inhibition of pyruvate dehydrogenase. Chem Res Toxicol 2001; 14:651-6.

Sampayo-Reyes A, Hernández A, El-Yamani N et al. Arsenic induces DNA damage in environmentally exposed Mexican children and adults. Influence of GSTO1 and AS3MT polymorphisms. Toxicol Sci 2010; 117:63-71.

Sanz MA, Fenaux P, Lo Coco F; European APL Group of Experts. Arsenic trioxide in the treatment of acute promyelocytic leukemia. A review of current evidence. Haematologica 2005; 90:1231-5.

Schläwicke Engström K, Broberg K, Concha G, Nermell B, Warholm M, Vahter M. Genetic polymorphisms influencing arsenic metabolism: evidence from Argentina. Environ Health Perspect 2007; 115:599-605.

Simeonova PP, Luster MI. Arsenic and atherosclerosis. Toxicol Appl Pharmacol 2004; 198:444-9.

Sirulnik LA, Stone RM. Acute promyelocytic leukemia: current strategies for the treatment of newly diagnosed disease. Clin Adv Hematol Oncol 2005; 3:391-7, 429.

Smith TJ, Crecelius EA, Reading JC. Airborne arsenic exposure and excretion of methylated arsenic compounds. Environ Health Perspect 1977; 19:89-93.

States JC, Srivastava S, Chen Y, Barchowsky A. Arsenic and cardiovascular disease. Toxicol Sci 2009; 107:312-23.

Styblo M, del Razo LM, Vega L et al. Comparative toxicity of trivalent and pentavalent inorganic and methylated arsenicals in rat and human cells. Arch Toxicol 2000; 74:289-99.

Tchounwou PB, Yedjou CG, Foxx DN, Ishaque AB, Shen E. Lead-induced cytotoxicity and transcriptional activation of stress genes in human liver carcinoma (HepG2) cells. Mol Cell Biochem 2004; 255:161-70.

Tseng CH. Cardiovascular disease in arsenic-exposed subjects living in the arseniasis-hyperendemic areas in Taiwan. Atherosclerosis 2008; 199:12-8.

Valenzuela OL, Drobná Z, Hernández-Castellanos E et al. Association of AS3MT polymorphisms and the risk of premalignant arsenic skin lesions. Toxicol Appl Pharmacol 2009; 239:200-7.

Wood TC, Salavagionne OE, Mukherjee B et al. Human arsenic methyltransferase (AS3MT) pharmacogenetics: Gene resequencing and functional genomics studies. J Biol Chem 2006; 281:7364-73.

Wulff M, Högberg U, Sandström A. Cancer incidence for children born in a smelting community. Acta Oncol 1996; 35:179-83.

Yokohira M, Arnold LL, Pennington KL et al. Effect of sodium arsenite dose administered in the drinking water on the urinary bladder epithelium of female arsenic (+3oxidation state) methyltransferase knockout mice. Toxicol Sci 2011; 121:257-66.

Yoshida T, Yamauchi H, Fan Sun G. Chronic health effects in people exposed to arsenic via the drinking water: dose-response relationships in review. Toxicol Appl Pharmacol 2004; 198:243-52.

Zhou GB, Zhang J, Wang ZY, Chen SJ, Chen Z. Treatment of acute promyelocytic leukaemia with all-trans retinoic acid and arsenic trioxide: a paradigm of synergistic molecular targeting therapy. Philos Trans R Soc Lond B Biol Sci 2007; 362:959-71.

ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)

Dervieux T, Furst D, Lein DO et al. Pharmacogenetic and metabolite measurements are associated with clinical status in patients with rheumatoid arthritis treated with methotrexate: results of a multicentred cross sectional observational study. Ann Rheum Dis 2005; 64:1180-5.

Dervieux T, Furst D, Lein DO et al. Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. Arthritis Rheum 2004; 50:2766-74.

Iannaccone CK, Lee YC, Cui J et al. Using genetic and clinical data to understand response to disease-modifying anti-rheumatic drug therapy: data from the Brigham and Women’s Hospital Rheumatoid Arthritis Sequential Study. Rheumatology 2011; 50:40-6.

Marie S, Heron B, Bitoun P, Timmerman T, van den Berghe G, Vincent MF. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet 2004; 74:1276-81.

Warren RB, Smith RL, Campalani E et al. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. Br J Dermatol 2009; 160:438-41.

Wessels JA, van der Kooij SM, le Cessie S et al. A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis. Arthritis Rheum 2007; 56:1765-75.

ATP7A (ATPase, Cu2+ transporting, alpha polypeptide)

Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci 2008; 65:89-91.

Chen HR, Yang HC, Hsieh DJ, Liu Z, Tsai KJ. Zebrafish sod1 and sp1 expression are modulated by the copper ATPase gene atp7a in response to intracellular copper status. Chem Biol Interact 2011; 189:192-7.

Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet 1995; 56:570-6.

de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet 2007; 44:673-88.

Deeken JF, Cormier T, Price DK et al. A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform. Pharmacogenomics J 2010; 10:191-9.

Fukushima-Uesaka H, Saito Y, Maekawa K et al. Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients. Drug Metab Pharmacokinet 2009; 24:565-74.

Kim HW, Chan Q, Afton SE et al. Human macrophage ATP7A is localized in the trans-Golgi apparatus, controls intracellular Copper levels, and mediates macrophage responses to dermal wounds. Inflammation 2011. doi:10. 1007/s10753-011-9302-z.

Llanos RM, Michalczyk AA, Freestone DJ et al. Copper transport during lactation in transgenic mice expressing the human ATP7A protein. Biochem Biophys Res Commun 2008; 372:613-7.

Merner ND, Dion PA, Rouleau GA. Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. Clin Genet 2011; 79:23-34.

Møller LB, Tümer Z, Lund C et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet 2000; 66:1211-20.

Rabik CA, Maryon EB, Kasza K, Shafer JT, Bartnik CM, Dolan ME. Role of copper transporters in resistance to platinating agents. Cancer Chemother Pharmacol 2009; 64:133-42.

Safaei R, Howell SB. Copper transporters regulate the cellular pharmacology and sensitivity to Pt drugs. Crit Rev Oncol Hematol 2005; 53:13-23.

Samimi G, Safaei R, Katano K et al. Increased expression of the copper efflux transporter ATP7A mediates resistance to cisplatin, carboplatin, and oxaliplatin in ovarian cancer cells. Clin Cancer Res 2004; 10:4661-9.

Samimi G, Varki NM, Wilczynski S, Safaei R, Alberts DS, Howell SB. Increase in expression of the copper transporter ATP7A during platinum drug-based treatment is associated with poor survival in ovarian cancer patients. Clin Cancer Res 2003; 9:5853-9.

Tsukahara M, Imaizumi K, Kawai S, Kajii T. Occipital horn syndrome: report of a patient and review of the literature. Clin Genet 1994; 45:32-5.

Tümer Z, Møller LB, Horn N. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol 1999; 448:83-95.

Zhang Y, Li M, Yao Q, Chen C. Roles and mechanisms of copper transporting ATPases in cancer pathogenesis. Med Sci Monit 2009; 15:1-5.

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