Gene References

A B C D E F G H I K L M N O P R S T U V W X Z

P2RY1 (purinergic receptor P2Y, G-protein coupled, 1)

Adrian K, Bernhard MK, Breitinger HG, Ogilvie A. Expression of purinergic receptors (ionotropic P2X1-7 and metabotropic P2Y1-11) during myeloid differentiation of HL60 cells. Biochim Biophys Res Acta 2000; 1492:127-38.

Fontana P, Remones V, Reny JL, Aiach M, Gaussem P. P2Y1 gene polymorphism and ADP-induced platelet response. J Thromb Haemost 2005; 3:2349-50.

Hetherington SL, Singh RK, Lodwick D, Thompson JR, Goodall AH, Samani NJ. Dimorphism in the P2Y1 ADP receptor gene is associated with increased platelet activation response to ADP. Arterioscler Thromb Vasc Biol 2005; 25:252-7.

Jefferson BK, Foster JH, McCarthy JJ et al. Aspirin resistance and a single gene. Am J Cardiol 2005; 95:805-8.

Kunicki TJ, Williams SA, Salomon Dr et al. Genetics of platelet reactivity in normal, healthy individuals. J Thromb Haemost 2009; 7:2116-22.

Lev EI, Patel RT, Guthikonda S, Lopez D, Bray PF, Kleiman NS. Genetic polymorphisms of the platelet receptors P2Y(12), P2Y(1) and GP IIIa and response to aspirin and clopidogrel. Thromb Res 2007; 119:355-60.

Li Q, Chen BL, Ozdemir V et al. Frequency of genetic polymorphisms of COX1, GPIIIa and P2Y1 in a Chinese population and association with attenuated response to aspirin. Pharmacogenomics 2007; 8:577-86.

Masse K, Bhamra S, Eason R, Dale N, Jones EA. Purine-mediated signalling triggers eye development. Nature 2007; 449:1058-62.

Mutafova-Yambolieva VN, Hwang SJ, Hao X et al. Beta-nicotinamide adenine dinucleotide is an inhibitory neurotransmitter in visceral smooth muscle. Proc Nat Acad Sci USA 2007; 104:16359-64.

Sibbing D, von Beckerath O, Schömig A, Kastrati A, von Beckerath N. P2Y1 gene A1622G dimorphism is not associated with adenosine diphosphate-induced platelet activation and aggregation after administration of a single high dose of clopidogrel. J Thromb Haemost 2006; 4:912-4.

P2RY12 (purinergic receptor P2Y, G-protein coupled, 12)

Angiolillo DJ, Fernandez-Ortiz A, Bernardo E et al. Lack of association between the P2Y12 receptor gene polymorphism and platelet response to clopidogrel in patients with coronary artery disease. Thromb Res 2005; 116:491-7.

Cattaneo M, Zighetti ML, Lombardi R et al. Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Nat Acad Sci USA 2003; 100:1978-83.

Cavallari U, Trabetti E, Malerba G et al. Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease. BMC Med Genet 2007; 8:59.

Cuisset T, Frere C, Quilici J et al. Role of the T744C polymorphism of the P2Y12 gene on platelet response to a 600-mg loading dose of clopidogrel in 597 patients with non-ST-segment elevation acute coronary syndrome. Thromb Res 2007; 120:893-9.

Fontana P, Dupont A, Gandrille S et al. Adenosine diphosphate-induced platelet aggregation is associated with P2Y(12) gene sequence variations in healthy subjects. Circulation 2003; 108:989-95.

Fontana P, Gaussem P, Aiach M, Fiessinger JN, Emmerich J, Reny JL. P2Y(12) H2 haplotype is associated with peripheral arterial disease: a case-control study. Circulation 2003; 108:2971-73.

Hollopeter G, Jantzen HM, Vincent D et al. Identification of the platelet ADP receptor targeted by antithrombotic drugs. Nature 2001; 409:202-7.

Lev EI, Patel RT, Guthikonda S, Lopez D, Bray PF, Kleiman NS. Genetic polymorphisms of the platelet receptors P2Y(12), P2Y(1) and GP IIIa and response to aspirin and clopidogrel. Thromb Res 2007; 119:355-60.

Schettert IT, Pereira AC, Lopes NH, Hueb WA, Krieger JE. Association between platelet P2Y12 haplotype and risk of cardiovascular events in chronic coronary disease. Thromb Res 2006; 118:679-83.

von Beckerath N, von Beckerath O, Koch W, Eichinger M, Schömig A, Kastrati A. P2Y12 gene H2 haplotype is not associated with increased adenosine diphosphate-induced platelet aggregation after initiation of clopidogrel therapy with a high loading dose. Blood Coagul Fibrinolysis 2005; 16:199-204.

Zee RY, Michaud SE, Diehl KA et al. Purinergic receptor P2Y, G-protein coupled, 12 gene variants and risk of incident ischemic stroke, myocardial infarction, and venous thromboembolism. Atherosclerosis 2008; 197:694-9.

PARK2 (parkinson protein 2, E3 ubiquitin protein ligase (parkin))

Abbas N, Lücking CB, Ricard S et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s Disease. Hum Mol Genet 1999; 8:567-74.

Casarejos MJ, Solano RM, Menéndez J et al. Differential effects of l-DOPA on monoamine metabolism, cell survival and glutathione production in midbrain neuronal-enriched cultures from parkin knockout and wild-type mice. J Neurochem 2005; 94:1005-14.

Cesari R, Martin ES, Calin GA et al. Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27. Proc Natl Acad Sci USA 2003; 100:5956-61.

Guerrero R, Navarro P, Gallego E, Avila J, de Yebenes JG, Sanchez MP. Park2-null/tau transgenic mice reveal a functional relationship between parkin and tau. J Alzheimers Dis 2008; 13:161-72.

LaVoie MJ, Ostaszewski BL, Weihofen A, Schlossmacher MG, Selkoe DJ. Dopamine covalently modifies and functionally inactivates parkin. Nat Med 2005; 11:1214-21.

Mira MT, Alcaïs A, Nguyen VT et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 2004; 427:636-40.

Navarro P, Guerrero R, Gallego E et al. Motor alterations are reduced in mice lacking the PARK2 gene in the presence of a human FTDP-17 mutant form of four-repeat tau. J Neurol Sci 2008; 275:139-44.

Perez FA, Palmiter RD. Parkin-deficient mice are not a robust model of parkinsonism. Proc Natl Acad Sci USA 2005; 102:2174-9.

Springer W, Hoppe T, Schmidt E, Baumeister R. A Caenorhabditis elegans Parkin mutant with altered solubility couples alpha-synuclein aggregation to proteotoxic stress. Hum Mol Genet 2005; 14:3407-23.

Tain LS, Mortiboys H, Tao RN, Ziviani E, Bandmann O, Whitworth AJ. Rapamycin activation of 4E-BP prevents parkinsonian dopaminergic neuron loss. Nat Neurosci 2009; 12:1129-35.

PDE1C (phosphodiesterase 1C, calmodulin-dependent 70kDa)

Cygnar KD, Zhao H. Phosphodiesterase 1C is dispensable for rapid response termination of olfactory sensory neurons. Nat Neurosci 2009; 12:454-62.

Lakics V, Karran EH, Boess FG. Quantitative comparison of phosphodiesterase mRNA distribution in human brain and peripheral tissues. Neuropharmacology 2010; 59:367-74.

Rybalkin SD, Bornfeldt KE, Sonnenburg WK et al. Calmodulin-stimulated cyclic nucleotide phosphodiesterase (PDE1C) is induced in human arterial smooth muscle cells of the synthetic, proliferative phenotype. J Clin Invest 1997; 100:2611-21.

Wong ML, Whelan F, Deloukas P et al. Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. Proc Natl Acad Sci USA 2006; 103:15124-9.

PDE5A (phosphodiesterase 5A, cGMP-specific)

Ali O, Wharton J, Gibbs JS, Howard L, Wilkins MR. Emerging therapies for pulmonary arterial hypertension. Expert Opin Investig Drugs 2007; 16:803-18.

Chompret A, Kannengiesser C, Barrois M et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 2004; 126:318-21.

Cools J, DeAngelo DJ, Gotlib J et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 2003; 348:1201-14.

Das A, Xi L, Kukreja RC. Phosphodiesterase-5 inhibitor sildenafil preconditions adult cardiac myocytes against necrosis and apoptosis. Essential role of nitric oxide signaling. J Biol Chem 2005; 280:12944-55.

de Raedt T, Cools J, Debiec-Rychter M et al. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. Gastroenterology 2006; 131:1907-12.

Heinrich MC, Corless CL, Duensing A et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299:708-10.

Pasini B, Matyakhina L, Bei T et al. Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect. J Clin Endocrinol Metab 2007; 92:3728-32.

Wong ML, Whelan F, Deloukas P et al. Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. Proc Natl Acad Sci USA 2006; 103:15124-9.

PDGFRA (platelet-derived growth factor receptor, alpha polypeptide)

Burger H, den Bakker MA, Kros JM et al. Activating mutations in c-KIT and PDGFRalpha are exclusively found in gastrointestinal stromal tumors and not in other tumors overexpressing these imatinib mesylate target genes. Cancer Biol Ther 2005; 4:1270-4.

Coindre JM. Molecular biology of soft-tissue sarcomas. Bull Cancer 2010; 97:1337-45.

Fernandes Gdos S, Blanke CD, Freitas D, Guedes R, Hoff PM. Perioperative treatment of gastrointestinal stromal tumors. Oncology 2009; 23:54-61.

Goldberg RM, Niedzwiecki D, Bertagnolli M, Blackstock AW, Tepper JE, Mayer RJ. Cancer and leukemia group B gastrointestinal cancer committee. Clin Cancer Res 2006; 12:3589-95.

Gounder MM, Maki RG. Molecular basis for primary and secondary tyrosine kinase inhibitor resistance in gastrointestinal stromal tumor. Cancer Chemother Pharmacol 2011; 67 Suppl 1:25-43.

Heinrich MC, Maki RG, Corless CL et al. Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. J Clin Oncol 2008; 26:5352-9.

Isozaki K, Hirota S. Gain-of-function mutations of receptor tyrosine kinases in gastrointestinal stromal tumors. Curr Genomics 2006; 7:469-75.

Lasota J, Miettinen M. KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diagn Pathol 2006; 23:91-102.

Liu T, Willmore-Payne C, Layfield LJ, Glasgow RE, Holden JA. A gastrointestinal stromal tumor of the stomach morphologically resembling a neurofibroma: demonstration of a novel platelet-derived growth factor receptor alpha exon 18 mutation. Hum Pathol 2008; 39:1849-53.

Nobusawa S, Lachuer J, Wierinckx A et al. Intratumoral patterns of genomic imbalance in glioblastomas. Brain Pathol 2010; 20:936-44.

Olson LE, Soriano P. Increased PDGFRalpha activation disrupts connective tissue development and drives systemic fibrosis. Dev Cell 2009; 16:303-13.

Ozawa T, Brennan CW, Wang L et al. PDGFRA gene rearrangements are frequent genetic events in PDGFRA-amplified glioblastomas. Genes Dev 2010; 24:2205-18.

Rossi S, Gasparotto D, Toffolatti L et al. Molecular and clinicopathologic characterization of gastrointestinal stromal tumors (GISTs) of small size. Am J Surg Pathol 2010; 34:1480-91.

Su EJ, Fredriksson L, Geyer M et al. Activation of PDGF-CC by tissue plasminogen activator impairs blood-brain barrier integrity during ischemic stroke. Nat Med 2008; 14:731-7.

Tefferi A. Modern diagnosis and treatment of primary eosinophilia. Acta Haematol 2005; 114:52-60.

Tryggvason G, Hilmarsdottir B, Gunnarsson GH, Jónsson JJ, Jónasson JG, Magnússon MK. Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. APMIS 2010; 118:648-56.

Xiang YN, Gao DX, He HY, Wang YP, Zhang W, Zheng J. Ultrastructural features and platelet-derived growth factor receptor A gene mutations in CD117-negative gastrointestinal stromal tumor. Zhonghua Bing Li Xue Za Zhi 2006; 35:73-6.

Yeoh EJ, Ross ME, Shurtleff SA et al. Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer Cell 2002; 1:133-43.

PDGFRB (platelet-derived growth factor receptor, beta polypeptide)

Abe A, Emi N, Tanimoto M, Terasaki H, Marunouchi T, Saito H. Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. Blood 1997; 90:4271-7.

Apperley JF, Gardembas M, Melo JV et al. Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. N Engl J Med 2002; 347:481-7.

Emile JF, Théou N, Tabone S et al. Clinicopathologic, phenotypic, and genotypic characteristics of gastrointestinal mesenchymal tumors. Clin Gastroenterol Hepatol 2004; 2:597-605.

Fernandes Gdos S, Blanke CD, Freitas D, Guedes R, Hoff PM. Perioperative treatment of gastrointestinal stromal tumors. Oncology 2009; 23:54-61.

Kinoshita K, Nakagawa K, Hamada J et al. Imatinib mesylate inhibits the proliferation-stimulating effect of human lung cancer-associated stromal fibroblasts on lung cancer cells. Int J Oncol 2010; 37:869-77.

Klinghoffer RA, Mueting-Nelsen PF, Faerman A, Shani M, Soriano P. The two PDGF receptors maintain conserved signaling in vivo despite divergent embryological functions. Mol Cell 2001; 7:343-54.

Kodama M, Kitadai Y, Sumida T et al. Expression of platelet-derived growth factor (PDGF)-B and PDGF-receptor β is associated with lymphatic metastasis in human gastric carcinoma. Cancer Sci 2010; 101:1984-9.

Nazarian R, Shi H, Wang Q et al. Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature 2010; 468:973-7.

Steer EJ, Cross NC. Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta. Acta Haematol 2002; 107:113-22.

Tefferi A. Modern diagnosis and treatment of primary eosinophilia. Acta Haematol 2005; 114:52-60.

Ustach CV, Huang W, Conley-LaComb MK et al. A novel signaling axis of matriptase/PDGF-D/ß-PDGFR in human prostate cancer. Cancer Res 2010; 70:9631-40.

Walz C, Haferlach C, Hänel A et al. Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5; 17)(q33-34; q11. 2). Genes Chromosomes Cancer 2009; 48:179-83.

PEMT (phosphatidylethanolamine N-methyltransferase)

da Costa KA, Kozyreva OG, Song J, Galanko JA, Fischer LM, Zeisel SH. Common genetic polymorphisms affect the human requirement for the nutrient choline. FASEB J 2006; 20:1336-44.

Fischer LM, da Costa KA, Kwock L, Galanko J, Zeisel SH. Dietary choline requirements of women: effects of estrogen and genetic variation. Am J Clin Nutr 2010; 92:1113-9.

Guan ZZ, Wang YN, Xiao KQ, Hu PS, Liu JL. Activity of phosphatidylethanolamine-N-methyltransferase in brain affected by Alzheimer’s disease. Neurochem Int 1999; 34:41-7.

Pan HJ, Lin Y, Chen YE, Vance DE, Leiter EH. Adverse hepatic and cardiac responses to rosiglitazone in a new mouse model of type 2 diabetes: relation to dysregulated phosphatidylcholine metabolism. Vascul Pharmacol 2006; 45:65-71.

Song J, da Costa KA, Fischer LM et al. Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). FASEB J 2005; 19:1266-71.

Zhu X, Song J, Mar MH, Edwards LJ, Zeisel SH. Phosphatidylethanolamine N-methyltransferase (PEMT) knockout mice have hepatic steatosis and abnormal hepatic choline metabolite concentrations despite ingesting a recommended dietary intake of choline. Biochem J 2003; 370:987-93.

PIK3CA (phosphoinositide-3-kinase, catalytic, alpha polypeptide)

Campbell IG, Russell SE, Choong DY et al. Mutation of the PIK3CA gene in ovarian and breast cancer. Cancer Res 2004; 64:7678-81.

Dam V, Morgan BT, Mazanek P, Hogarty MD. Mutations in PIK3CA are infrequent in neuroblastoma. BMC Cancer 2006; 6:177.

Edvardsen H, Brunsvig PF, Solvang H et al. SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance. Pharmacogenomics J 2010; 10:513-23.

Esteva FJ, Guo H, Zhang S et al. PTEN, PIK3CA, p-AKT, and p-p70S6K status: association with trastuzumab response and survival in patients with HER2-positive metastatic breast cancer. Am J Pathol 2010; 177:1647-56.

Freeman DJ, Juan T, Reiner M et al. Association of K-ras mutational status and clinical outcomes in patients with metastatic colorectal cancer receiving panitumumab alone. Clin Colorectal Cancer 2008; 7:184-90.

Hafner C, López-Knowles E, Luis NM et al. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci USA 2007; 104:13450-4.

Inuzuka Y, Okuda J, Kawashima T et al. Suppression of phosphoinositide 3-kinase prevents cardiac aging in mice. Circulation 2009; 120:1695-703.

Liang S, Yang N, Pan Y et al. Expression of activated PIK3CA in ovarian surface epithelium results in hyperplasia but not tumor formation. PLoS One 2009. doi:10. 1371/journal. pone. 0004295.

Liao W, Liao Y, Zhou JX et al. Gene mutations in epidermal growth factor receptor signaling network and their association with survival in Chinese patients with metastatic colorectal cancers. Anat Rec 2010; 293:1506-11.

Lu Z, Jiang YP, Wang W et al. Loss of cardiac phosphoinositide 3-kinase p110 alpha results in contractile dysfunction. Circulation 2009; 120:318-25.

Samuels Y, Wang Z, Bardelli A et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004; 304:554.

Slattery ML, Herrick JS, Lundgreen A, Fitzpatrick FA, Curtin K, Wolff RK. Genetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1. Carcinogenesis 2010; 31:1604-11.

Sun Y, Ren Y, Fang Z et al. Lung adenocarcinoma from East Asian never-smokers is a disease largely defined by targetable oncogenic mutant kinases. J Clin Oncol 2010; 28:4616-20.

POLG (polymerase (DNA directed), gamma)

Aknin-Seifer IE, Touraine RL, Lejeune H et al. Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study. Hum Reprod 2005; 20:736-40.

Davidzon G, Mancuso M, Ferraris S et al. POLG mutations and Alpers syndrome. Ann Neurol 2005; 57:921-3.

DiMauro S, Gurgel-Giannetti J. The expanding phenotype of mitochondrial myopathy. Curr Opin Neurol 2005; 18:538-42.

Filosto M, Mancuso M, Nishigaki Y et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol 2003; 60:1279-84.

Giordano C, Pichiorri F, Blakely EL et al. Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations. Arch Neurol 2010; 67:1144-6.

Giordano C, Powell H, Leopizzi M et al. Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. Neurology 2009; 72:1103-5.

Hakonen AH, Davidzon G, Salemi R et al. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. Eur J Hum Genet 2007; 15:779-83.

Hakonen AH, Heiskanen S, Juvonen V et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 2005; 77:430-41.

Hudson G, Deschauer M, Taylor RW et al. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology 2006; 66:1439-41.

Kato T. Molecular genetics of bipolar disorder and depression. Psychiatry Clin Neurosci 2007; 61:3-19.

Kollberg G, Jansson M, Perez-Bercoff A et al. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Europ J Hum Genet 2005; 13:436-69.

Mancuso M, Filosto M, Bellan M et al. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 2004; 62:316-8.

Naviaux RK, Nguyen KV. POLG mutations associated with Alpers’ syndrome and mitochondrial DNA depletion. Ann Neurol 2004; 55:706-12.

Naviaux RK, Nguyen KV. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Ann Neurol 2005; 58:491.

Nguyen KV, Østergaard E, Ravn SH et al. POLG mutations in Alpers syndrome. Neurology 2005; 65:1493-5.

Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. Molecular diagnosis of Alpers syndrome. J Hepatol 2006; 45:108-16.

Rovio AT, Marchington DR, Donat S et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 2001; 29:261-2.

Sánchez Hellín V, Gutiérrez Rodero F. Toxicogenetics of antiretroviral treatment (II): neurotoxicity, hepatotoxicity, lactic acidosis, kidney damage, and other adverse effects of antiretroviral drugs. Enferm Infecc Microbiol Clin 2008; 26 Suppl 6:24-33.

Schicks J, Synofzik M, Schulte C, Schöls L. POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. Mov Disord 2010; 25:2678-82.

Stewart JD, Horvath R, Baruffini E et al. Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 2010; 52:1791-6.

Trifunovic A, Wredenberg A, Falkenberg M et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004; 429:417-23.

van Goethem G, Dermaut B, Lofgren A, Martin J-J, van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28:211-2.

van Goethem G, Löfgren A, Dermaut B et al. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Hum Mutat 2003; 22:175-6.

van Goethem G, Luoma P, Rantamäki M et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004; 63:1251-7.

van Goethem G, Martin JJ, Dermaut B et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 2003; 13:133-42.

van Goethem G, Mercelis R, Löfgren A et al. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 2003; 61:1811-3.

van Goethem G, Schwartz M, Löfgren A, Dermaut B, van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet 2003; 11:547-9.

Vermulst M, Wanagat J, Kujoth GC et al. DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice. Nat Genet 2008; 40:392-4.

Vissing J, Ravn K, Danielsen ER et al. Multiple mtDNA deletions with features of MNGIE. Neurology 2002; 59:926-9.

Wilcox RA, Churchyard A, Dahl HH, Hutchison WM, Kirby DM, Thyagarajan D. Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions. Mov Disord 2007; 22:1020-3.

Winterthun S, Ferrari G, He L et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005; 64:1204-8.

PON1 (paraoxonase 1)

Cole TB, Jansen K, Park S, Li WF, Furlong CE, Costa LG. The toxicity of mixtures of specific organophosphate compounds is modulated by paraoxonase 1 status. Adv Exp Med Biol 2010; 660:47-60.

Deakin S, Leviev I, Guernier S, James RW. Simvastatin modulates expression of the PON1 gene and increases serum paraoxonase: a role for sterol regulatory element-binding protein-2. Arterioscler Thromb Vasc Biol 2003; 23:2083-9.

Durić G, Svetel M, Nikolaevic SI, Dragadević N, Gavrilović J, Kostić VS. Polymorphisms in the genes of cytochrome oxidase P450 2D6 (CYP2D6), paraoxonase 1 (PON1) and apolipoprotein E (APOE) as risk factors for Parkinson’s disease. Vojnosanit Pregl 2007; 64:25-30.

Ergen A, Kılıcoglu O, Ozger H, Agachan B, Isbir T. Paraoxonase 1 192 and 55 polymorphisms in osteosarcoma. Mol Biol Rep 2011; 38:4181-4.

Giusti B, Saracini C, Bolli P et al. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. J Med Genet 2008; 45:721-30.

Gonzalez-Herrera L, Martín Cerda-Flores R, Luna-Rivero M et al. Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico. Birth Defects Res A Clin Mol Teratol 2010; 88:987-94.

Hofmann JN, Keifer MC, Furlong CE et al. Serum cholinesterase inhibition in relation to paraoxonase-1 (PON1) status among organophosphate-exposed agricultural pesticide handlers. Environ Health Perspect 2009; 117:1402-8.

Hussein YM, Gharib AF, Etewa RL, Elsawy WH. Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with breast cancer risk and their clinical significance. Mol Cell Biochem 2011; 351:117-23.

Jarvik GP, Tsai NT, McKinstry LA et al. Vitamin C and E intake is associated with increased paraoxonase activity. Arterioscler Thromb Vasc Biol 2002; 22:1329-33.

Kao Y, Donaghue KC, Chan A, Bennetts BH, Knight J, Silink M. Paraoxonase gene cluster is a genetic marker for early microvascular complications in type 1 diabetes. Diabet Med 2002; 19:212-5.

Koh JM, Kim BJ, Kim SY et al. Association of Paraoxonase 1 (PON1) polymorphisms with osteoporotic fracture risk in postmenopausal Korean women. Exp Mol Med 2011; 43:71-81.

Lee CH, Lee KY, Choe KH et al. Effects of oxidative DNA damage induced by polycyclic aromatic hydrocarbons and genetic polymorphism of the paraoxonase-1 (PON1) gene on lung cancer. J Prev Med Public Health 2005; 38:345-50.

Liu C, Batliwalla F, Li W et al. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. Mol Med 2008; 14:575-81.

Mashima Y. DNA diagnosis in the age of individual made-to-order medications. Nippon Ganka Gakkai Zasshi 2004; 108:863-86.

Nagila A, Permpongpaiboon T, Tantrarongroj S et al. Effect of atorvastatin on paraoxonase1 (PON1) and oxidative status. Pharmacol Rep 2009; 61:892-8.

Naidu R, Har YC, Taib NA. Genetic polymorphisms of Paraoxonase 1 (PON1) gene: Association between L55M or Q192R with breast cancer risk and clinico-pathological parameters. Pathol Oncol Res 2010. doi:10. 1007/s12253-010-9267-5.

Pola R, Flex A, Ciaburri M et al. Responsiveness to cholinesterase inhibitors in Alzheimer’s disease: a possible role for the 192 Q/R polymorphism of the PON-1 gene. Neurosci Lett 2005; 382:338-41.

Povey AC. Gene-environmental interactions and organophosphate toxicity. Toxicology 2010; 278:294-304.

Ranade K, Kirchgessner TG, Iakoubova OA et al. Evaluation of the paraoxonases as candidate genes for stroke: Gln192Arg polymorphism in the paraoxonase 1 gene is associated with increased risk of stroke. Stroke 2005; 36:2346-50.

Rontu R, Lehtimäki T, Ilveskoski E et al. Association of paraoxonase-1 M55L genotype and alcohol consumption with coronary atherosclerosis: the Helsinki Sudden Death Study. Pharmacogenetics 2004; 14:479-85.

Ruaño G, Goethe JW, Caley C et al. Physiogenomic comparison of weight profiles of olanzapine- and risperidone-treated patients. Mol Psychiatry 2007; 12:474-82.

Serrato M, Marian AJ. A variant of human paraoxonase/arylesterase (HUMPONA) gene is a risk factor for coronary artery disease. J Clin Invest 1995; 96:3005-8.

Uyar OA, Kara M, Erol D, Ardicoglu A, Yuce H. Investigating paraoxonase-1 gene Q192R and L55M polymorphism in patients with renal cell cancer. Genet Mol Res 2011; 10:133-9.

Veiga L, Silva-Nunes J, Melão A, Oliveira A, Duarte L, Brito M. Q192R polymorphism of the paraoxonase-1 gene as a risk factor for obesity in Portuguese women. Eur J Endocrinol 2011; 164:213-8.

PPARA (peroxisome proliferator-activated receptor alpha)

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.

Chen S, Tsybouleva N, Ballantyne CM, Gotto AM Jr, Marian AJ. Effects of PPARalpha, gamma and delta haplotypes on plasma levels of lipids, severity and progression of coronary atherosclerosis and response to statin therapy in the lipoprotein coronary atherosclerosis study. Pharmacogenetics 2004; 14:61-71.

Cresci S, Jones PG, Sucharov CC et al. Interaction between PPARA genotype and beta-blocker treatment influences clinical outcomes following acute coronary syndromes. Pharmacogenomics 2008; 9:1403-17.

Flavell DM, Jamshidi Y, Hawe E et al. Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease. Circulation 2002; 105:1440-5.

Foucher C, Rattier S, Flavell DM et al. Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes. Pharmacogenetics 2004; 14:823-9.

Juang JM, de Las Fuentes L, Waggoner AD, Gu CC, Dávila-Román VG. Association and interaction of PPAR-complex gene variants with latent traits of left ventricular diastolic function. BMC Med Genet 2010; 11:65.

Knouff CW, Lim N, Song K et al. Pharmacological effects of lipid-lowering drugs recapitulate with a larger amplitude the phenotypic effects of common variants within their target genes. Pharmacogenet Genomics 2008; 18:1051-7.

Robitaille J, Brouillette C, Houde A et al. Association between the PPARalpha-L162V polymorphism and components of the metabolic syndrome. J Hum Genet 2004; 49:482-9.

Tai ES, Demissie S, Cupples LA et al. Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham Offspring Study. Arterioscler Thromb Vasc Biol 2002; 22:805-10.

Vohl MC, Lepage P, Gaudet D et al. Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia. J Lipid Res 2000; 41:945-52.

PPARD (peroxisome proliferator-activated receptor delta)

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Broyl A, Corthals SL, Jongen JL et al. Mechanisms of peripheral neuropathy associated with bortezomib and vincristine in patients with newly diagnosed multiple myeloma: a prospective analysis of data from the HOVON-65/GMMG-HD4 trial. Lancet Oncol 2010; 11:1057-65.

Chen S, Tsybouleva N, Ballantyne CM, Gotto AM Jr, Marian AJ. Effects of PPARalpha, gamma and delta haplotypes on plasma levels of lipids, severity and progression of coronary atherosclerosis and response to statin therapy in the lipoprotein coronary atherosclerosis study. Pharmacogenetics 2004; 14:61-71.

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.

Harman FS, Nicol CJ, Marin HE, Ward JM, Gonzalez FJ, Peters JM. Peroxisome proliferator-activated receptor-delta attenuates colon carcinogenesis. Nat Med 2004; 10:481-3.

Johnson DC, Corthals S, Ramos C et al. Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping. Blood 2008; 112:4924-34.

Mukundan L, Odegaard JI, Morel CR et al. PPAR-delta senses and orchestrates clearance of apoptotic cells to promote tolerance. Nat Med 2009; 15:1266-72.

Siezen CL, Tijhuis MJ, Kram NR et al. Protective effect of nonsteroidal anti-inflammatory drugs on colorectal adenomas is modified by a polymorphism in peroxisome proliferator-activated receptor delta. Pharmacogenet Genomics 2006; 16:43-50.

PPARG (peroxisome proliferator-activated receptor gamma)

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Bulotta A, Ludovico O, Coco A et al. The common -866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy. J Clin Endocrinol Metab 2005; 90:1176-80.

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Frederiksen L, Brødbaek K, Fenger M et al. Comment: studies of the Pro12Ala polymorphism of the PPAR-gamma gene in the Danish MONICA cohort: homozygosity of the Ala allele confers a decreased risk of the insulin resistance syndrome. J Clin Endocrinol Metab 2002; 87:3989-92.

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Hansen L, Ekstrom CT, Palacios RT. The Pro12-to-Ala variant of the PPARG gene is a risk factor for peroxisome proliferator-activated receptor-gamma/alpha agonist-induced edema in type 2 diabetic patients. J Clin Endocr Metab 2006; 91:3446-50.

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Hara M, Alcoser SY, Qaadir A, Beiswenger KK, Cox NJ, Ehrmann DA. Insulin resistance is attenuated in women with polycystic ovary syndrome with the Pro(12)Ala polymorphism in the PPARgamma gene. J Clin Endocrinol Metab 2002; 87:772-5.

Hsieh MC, Lin KD, Tien KJ et al. Common polymorphisms of the peroxisome proliferator-activated receptor-gamma (Pro12Ala) and peroxisome proliferator-activated receptor-gamma coactivator-1 (Gly482Ser) and the response to pioglitazone in Chinese patients with type 2 diabetes mellitus. Metabolism 2010; 59:1139-44.

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PPARGC1A (peroxisome proliferator-activated receptor gamma, coactivator 1 alpha)

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PRDX4 (peroxiredoxin 4)

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PRNP (prion protein)

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Jendroska K, Hoffman O, Schelosky L, Lees AJ, Poewe W, Daniel SE. Absence of disease related prion protein in neurodegenerative disorders presenting with Parkinson’s syndrome. J Neurol Neurosurg Psychiat 1994; 57:1249-51.

Kitamoto T, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Staussler syndrome. Biochem Biophys Res Commun 1993; 191:709-14.

Kocisko DA, Come JH, Priola SA et al. Cell-free formation of protease-resistant prion protein. Nature 1994; 370:471-4.

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Laplanche JL, El Hachimi KH, Durieux I et al. Prominent psychiatric feature in early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain 1999; 122:2375-86.

Laplanche J-L, Hunter N, Shinagawa M, Williams E. Scrapie, chronic wasting disease, and transmissible mink encephalopathy. In: Prusiner SB (Ed). Prion biology and diseases. Cold Spring Harbor Laboratory Press, New York, 1999:393-429.

Lauren J, Gimbel DA, Nygaard HB, Gilbert JW, Strittmatter SM. Cellular prion protein mediates impairment of synaptic plasticity by amyloid-beta oligomers. Nature 2009; 457:1128-32.

Le Pichon CE, Valley MT, Polymenidou M et al. Olfactory behavior and physiology are disrupted in prion protein knockout mice. Nat Neurosci 2009; 12:60-9.

Le Y, Yazawa H, Gong W et al. Cutting edge: the neurotoxic prion peptide fragment PrP(106-26) is a chemotactic agonist for the G protein-coupled receptor formyl peptide receptor-like 1. J Immun 2001; 166:1448-51.

Leuba G, Saini K, Saivoz A, Charnay Y. Early-onset familial Alzheimer disease with coexisting beta-amyloid and prion pathology. JAMA 2000; 283:1689-91.

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PROC (protein C (inactivator of coagulation factors Va and VIIIa))

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PSEN1 (presenilin 1)

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PSEN2 (presenilin 2 (Alzheimer disease 4))

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Li D, Parks SB, Kushner JD et al. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet 2006; 79:1030-9.

Morales A, Painter T, Li R et al. Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. Circulation 2010; 121:2176-82.

Ponting CP, Hutton M, Nyborg A, Baker M, Jansen K, Golde TE. Identification of a novel family of presenilin homologues. Hum Mol Genet 2002; 11:1037-44.

Qin W, Peng Y, Ksiezak-Reding H et al. Inhibition of cyclooxygenase as potential novel therapeutic strategy in N141I presenilin-2 familial Alzheimer’s disease. Mol Psychiatry 2006; 11:172-81.

Sawamura N, Morishima-Kawashima M, Waki H et al. Mutant presenilin 2 transgenic mice. A large increase in the levels of Abeta 42 is presumably associated with the low density membrane domain that contains decreased levels of glycerophospholipids and sphingomyelin. J Biol Chem 2000; 275:27901-8.

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PTGER1 (prostaglandin E receptor 1 (subtype EP1), 42kDa)

Bigler J, Sibert JG, Poole EM, Carlson CS, Potter JD, Ulrich CM. Polymorphisms predicted to alter function in prostaglandin E2 synthase and prostaglandin E2 receptors. Pharmacogenet Genomics 2007; 17:221-7.

Matsuoka Y, Furuyashiki T, Bito H et al. Impaired adrenocorticotropic hormone response to bacterial endotoxin in mice deficient in prostaglandin E receptor EP1 and EP3 subtypes. Proc Nat Acad Sci USA 2003; 100:4132-7.

Matsuoka Y, Furuyashiki T, Yamada K et al. Prostaglandin E receptor E1 controls impulsive behavior under stress. Proc Nat Acad Sci USA 2005; 102:16066-71.

Stock JL, Shinjo K, Burkhardt J et al. The prostaglandin E2 EP1 receptor mediates pain perception and regulates blood pressure. J Clin Invest 2001; 107:325-31.

PTGER2 (prostaglandin E receptor 2 (subtype EP2), 53kDa)

Bigler J, Sibert JG, Poole EM, Carlson CS, Potter JD, Ulrich CM. Polymorphisms predicted to alter function in prostaglandin E2 synthase and prostaglandin E2 receptors. Pharmacogenet Genomics 2007; 17:221-7.

Castellone MD, Teramoto H, Williams BO, Druey KM, Gutkind JS. Prostaglandin E2 promotes colon cancer cell growth through a GS-axin-beta-catenin signaling axis. Science 2005; 310:1504-10.

Hoeft B, Linseisen J, Beckmann L et al. Polymorphisms in fatty-acid-metabolism-related genes are associated with colorectal cancer risk. Carcinogenesis 2010; 31:466-72.

Jinnai N, Sakagami T, Sekigawa T et al. Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach. Hum Mol Genet 2004; 13:3203-17.

Liang X, Wang Q, Shi J et al. The prostaglandin E2 EP2 receptor accelerates disease progression and inflammation in a model of amyotrophic lateral sclerosis. Ann Neurol 2008; 64:304-14.

Liu D, Wu L, Breyer R, Mattson MP, Andreasson K. Neuroprotection by the PGE2 EP2 receptor in permanent focal ischemia. Ann Neurol 2005; 57:758-61.

Reinold H, Ahmadi S, Depner UB et al. Spinal inflammatory hyperalgesia is mediated by prostaglandin E receptors of the EP2 subtype. J Clin Invest 2005; 115:673-9.

PTGER3 (prostaglandin E receptor 3 (subtype EP3))

Byun E, Caillier SJ, Montalban X et al. Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis. Arch Neurol 2008; 65:337-44.

Grilo A, Sáez-Rosas MP, Santos-Morano J et al. Identification of genetic factors associated with susceptibility to angiotensin-converting enzyme inhibitors-induced cough. Pharmacogenet Genomics 2011; 21:10-7.

Kunikata T, Yamane H, Segi E et al. Suppression of allergic inflammation by the prostaglandin E receptor subtype EP3. Nat Immun 2005; 6:524-31.

Park BL, Park SM, Park JS et al. Association of PTGER gene family polymorphisms with aspirin intolerant asthma in Korean asthmatics. BMB Rep 2010; 43:445-9.

Park HW, Shin ES, Lee JE et al. Association between genetic variations in prostaglandin E2 receptor subtype EP3 gene (Ptger3) and asthma in the Korean population. Clin Exp Allergy 2007; 37:1609-15.

Ryckman KK, Morken NH, White MJ et al. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. PLoS One 2010. doi:10. 1371/journal. pone. 0009040.

Sanchez-Alavez M, Klein I, Brownell SE et al. Night eating and obesity in the EP3R-deficient mouse. Proc Nat Acad Sci USA 2007; 104:3009-14.

Shoji Y, Takahashi M, Kitamura T et al. Downregulation of prostaglandin E receptor subtype EP3 during colon cancer development. Gut 2004; 53:1151-8.

PTGER4 (prostaglandin E receptor 4 (subtype EP4))

Bigler J, Sibert JG, Poole EM, Carlson CS, Potter JD, Ulrich CM. Polymorphisms predicted to alter function in prostaglandin E2 synthase and prostaglandin E2 receptors. Pharmacogenet Genomics 2007; 17:221-7.

Cipollone F, Fazia ML, Iezzi A et al. Association between prostaglandin E receptor subtype EP4 overexpression and unstable phenotype in atherosclerotic plaques in human. Arterioscler Thromb Vasc Biol 2005; 25:1925-31.

Kabashima K, Sakata D, Nagamachi M, Miyachi Y, Inaba K, Narumiya S. Prostaglandin E2-EP4 signaling initiates skin immune responses by promoting migration and maturation of Langerhans cells. Nat Med 2003; 9:744-9.

Murn J, Alibert O, Wu N, Tendil S, Gidrol X. Prostaglandin E2 regulates B cell proliferation through a candidate tumor suppressor, Ptger4. J Exp Med 2008; 205:3091-103.

Perdigones N, Martín E, Robledo G et al. Study of chromosomal region 5p13. 1 in Crohn’s disease, ulcerative colitis, and rheumatoid arthritis. Hum Immunol 2010; 71:826-8.

Yokoyama U, Minamisawa S, Quan H et al. Chronic activation of the prostaglandin receptor EP4 promotes hyaluronan-mediated neointimal formation in the ductus arteriosus. J Clin Invest 2006; 116:3026-34.

Yoshida K, Oida H, Kobayashi T et al. Stimulation of bone formation and prevention of bone loss by prostaglandin E EP4 receptor activation. Proc Nat Acad Sci USA 2002; 99:4580-5.

PTGES (prostaglandin E synthase)

Bigler J, Sibert JG, Poole EM, Carlson CS, Potter JD, Ulrich CM. Polymorphisms predicted to alter function in prostaglandin E2 synthase and prostaglandin E2 receptors. Pharmacogenet Genomics 2007; 17:221-7.

Degousee N, Fazel S, Angoulvant D et al. Microsomal prostaglandin E2 synthase-1 deletion leads to adverse left ventricular remodeling after myocardial infarction. Circulation 2008; 117:1701-10.

Engblom D, Saha S, Engstrom L et al. Microsomal prostaglandin E synthase-1 is the central switch during immune-induced pyresis. Nat Neurosci 2003; 6:1137-8.

Forsberg L, Leeb L, Thoren S, Morgenstern R, Jakobsson PJ. Human glutathione dependent prostaglandin E synthase: gene structure and regulation. FEBS Lett 2000; 471:78-82.

Saha S, Engström L, Mackerlova L, Jakobsson PJ, Blomqvist A. Impaired febrile responses to immune challenge in mice deficient in microsomal prostaglandin E synthase-1. Am J Physiol Regul Integr Comp Physiol 2005; 288:1100-7.

Trebino CE, Stock JL, Gibbons CP et al. Impaired inflammatory and pain responses in mice lacking an inducible prostaglandin E synthase. Proc Nat Acad Sci USA 2003; 100:9044-9.

PTGFR (prostaglandin F receptor (FP))

Kim SH, Kim YK, Park HW et al. Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma. Pharmacogenet Genomics 2007; 17:295-304.

Sakurai M, Higashide T, Takahashi M, Sugiyama K. Association between genetic polymorphisms of the prostaglandin F2alpha receptor gene and response to latanoprost. Ophthalmology 2007; 114:1039-45.

Sugimoto Y, Yamasaki A, Segi E et al. Failure of parturition in mice lacking the prostaglandin F receptor. Science 1997; 277:681-3.

Yellon SM, Ebner CA, Sugimoto Y. Parturition and recruitment of macrophages in cervix of mice lacking the prostaglandin F receptor. Biol Reprod 2008; 78:438-44.

PTGIR (prostaglandin I2 (prostacyclin) receptor (IP))

Kim SH, Kim YK, Park HW et al. Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma. Pharmacogenet Genomics 2007; 17:295-304.

Patrignani P, Di Febbo C, Tacconelli S et al. Differential association between human prostacyclin receptor polymorphisms and the development of venous thrombosis and intimal hyperplasia: a clinical biomarker study. Pharmacogenet Genomics 2008; 18:611-20.

PTGIS (prostaglandin I2 (prostacyclin) synthase)

Funk CD. Prostaglandins and leukotrienes: advances in eicosanoid biology. Science 2001; 294:1871-5.

Ghosh M, Wang H, Ai Y et al. COX-2 suppresses tissue factor expression via endocannabinoid-directed PPARdelta activation. J Exp Med 2007; 204:2053-61.

Iwai N, Katsuya T, Ishikawa K et al. Human prostacyclin synthase gene and hypertension: the Suita Study. Circulation 1999; 100:2231-6.

Nakayama T, Soma M, Rehemudula D et al. Association of 5’ upstream promoter region of prostacyclin synthase gene variant with cerebral infarction. Am J Hypertens 2000; 13:1263-7.

Nakayama T, Soma M, Saito S et al. Association of a novel single nucleotide polymorphism of the prostacyclin synthase gene with myocardial infarction. Am Heart J 2002; 143:797-801.

Poole EM, Bigler J, Whitton J, Sibert JG, Potter JD, Ulrich CM. Prostacyclin synthase and arachidonate 5-lipoxygenase polymorphisms and risk of colorectal polyps. Cancer Epidemiol Biomarkers Prev 2006; 15:502-8.

Poole EM, Bigler J, Whitton J, Sibert JG, Potter JD, Ulrich CM. Prostacyclin synthase and arachidonate 5-lipoxygenase polymorphisms and risk of colorectal polyps. Cancer Epidemiol Biomarkers Prev 2006; 15:502-8.

Yamada Y, Matsuo H, Segawa T et al. Assessment of the genetic component of hypertension. Am J Hypertens 2006; 19:1158-65.

PTGS1 (prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase))

Clappers N, van Oijen MG, Sundaresan S et al. The C50T polymorphism of the cyclooxygenase-1 gene and the risk of thrombotic events during low-dose therapy with acetyl salicylic acid. Thromb Haemost 2008; 100:70-5.

Faraday N, Becker DM, Becker LC. Pharmacogenomics of platelet responsiveness to aspirin. Pharmacogenomics 2007; 8:1413-25.

Feher G, Feher A, Pusch G, Lupkovics G, Szapary L, Papp E. The genetics of antiplatelet drug resistance. Clin Genet 2009; 75:1-18.

Goodman T, Ferro A, Sharma P. Pharmacogenetics of aspirin resistance: a comprehensive systematic review. Br J Clin Pharmacol 2008; 66:222-32.

Halushka MK, Walker LP, Halushka PV. Genetic variation in cyclooxygenase 1: effects on response to aspirin. Clin Pharmacol Ther 2003; 73:122-30.

Kranzhofer R, Ruef J. Aspirin resistance in coronary artery disease is correlated to elevated markers for oxidative stress but not to the expression of cyclooxygenase (COX) 1/2, a novel COX-1 polymorphism or the PlA(1/2) polymorphism. Platelets 2006; 17:163-9.

Lee CR, Bottone FG Jr, Krahn JM et al. Identification and functional characterization of polymorphisms in human cyclooxygenase-1 (PTGS1). Pharmacogenet Genomics 2007; 17:145-60.

Lee CR, North KE, Bray MS, Couper DJ, Heiss G, Zeldin DC. Cyclooxygenase polymorphisms and risk of cardiovascular events: the Atherosclerosis Risk in Communities (ARIC) study. Clin Pharmacol Ther 2008; 83:52-60.

Lee YS, Kim H, Wu TX, Wang XM, Dionne RA. Genetically mediated interindividual variation in analgesic responses to cyclooxygenase inhibitory drugs. Clin Pharmacol Ther 2006; 79:407-18.

Li Q, Chen BL, Ozdemir V et al. Frequency of genetic polymorphisms of COX1, GPIIIa and P2Y1 in a Chinese population and association with attenuated response to aspirin. Pharmacogenomics 2007; 8:577-86.

Maree AO, Curtin RJ, Chubb A et al. Cyclooxygenase-1 haplotype modulates platelet response to aspirin. J Thromb Haemost 2005; 3:2340-5.

Shi J, Misso NL, Duffy DL et al. Cyclooxygenase-1 gene polymorphisms in patients with different asthma phenotypes and atopy. Eur Respir J 2005; 26:249-56.

St Germaine CG, Bogaty P, Boyer L, Hanley J, Engert JC, Brophy JM. Genetic polymorphisms and the cardiovascular risk of non-steroidal anti-inflammatory drugs. Am J Cardiol 2010; 105:1740-5.

Takahashi S, Ushida M, Komine R et al. Platelet responsiveness to in vitro aspirin is independent of COX-1 and COX-2 protein levels and polymorphisms. Thromb Res 2008; 121:509-17.

Ulrich CM, Bigler J, Sibert J et al. Cyclooxygenase 1 (COX1) polymorphisms in African-American and Caucasian populations. Hum Mutat 2002; 20:409-10.

Ulrich CM, Bigler J, Sparks R et al. Polymorphisms in PTGS1 (=COX-1) and risk of colorectal polyps. Cancer Epidemiol Biomarkers Prev 2004; 13:889-93.

PTGS2 (prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase))

Agachan Cakmakoglu B, Attar R, Kahraman OT et al. Cyclooxygenase-2 gene and epithelial ovarian carcinoma risk. Mol Biol Rep 2011; 38:3481-6.

Akkız H, Bayram S, Bekar A, Akgöllü E, Ülger Y. Functional polymorphisms of cyclooxygenase-2 gene and risk for hepatocellular carcinoma. Mol Cell Biochem 2011; 347:201-8.

Amirian ES, Ittmann MM, Scheurer ME. Associations between arachidonic acid metabolism gene polymorphisms and prostate cancer risk. Prostate 2011; 71:1382-9.

Campa D, Zienolddiny S, Maggini V, Skaug V, Haugen A, Canzian F. Association of a common polymorphism in the cyclooxygenase 2 gene with risk of non-small cell lung cancer. Carcinogenesis 2004; 25:229-35.

Chan IH, Tang NL, Leung TF et al. Association of prostaglandin-endoperoxide synthase 2 gene polymorphisms with asthma and atopy in Chinese children. Allergy 2007; 62:802-9.

Cipollone F, Toniato E, Martinotti S et al. A polymorphism in the cyclooxygenase 2 gene as an inherited protective factor against myocardial infarction and stroke. JAMA 2004; 291:2221-8.

Cox DG, Pontes C, Guino E et al. Polymorphisms in prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/COX2) and risk of colorectal cancer. Br J Cancer 2004; 91:339-43.

de Vries HS, te Morsche RH, van Oijen MG, Nagtegaal ID, Peters WH, de Jong DJ. The functional -765G→C polymorphism of the COX-2 gene may reduce the risk of developing crohn’s disease. PLoS One 2010. doi:10. 1371/journal. pone. 0015011.

Dong J, Dai J, Zhang M, Hu Z, Shen H. Potentially functional COX-2-1195G>A polymorphism increases the risk of digestive system cancers: a meta-analysis. J Gastroenterol Hepatol 2010; 25:1042-50.

Fehér A, Juhász A, Rimanóczy A, Kálmán J, Janka Z. Association study of interferon-γ, cytosolic phospholipase A2, and cyclooxygenase-2 gene polymorphisms in Alzheimer disease. Am J Geriatr Psychiatry 2010; 18:983-7.

Gałecki P, Florkowski A, Bieńkiewicz M, Szemraj J. Functional polymorphism of cyclooxygenase-2 gene (G-765C) in depressive patients. Neuropsychobiology 2010; 62:116-20.

Koh WP, Yuan JM, van den Berg D, Lee HP, Yu MC. Interaction between cyclooxygenase-2 gene polymorphism and dietary n-6 polyunsaturated fatty acids on colon cancer risk: the Singapore Chinese Health Study. Br J Cancer 2004; 90:1760-4.

Lee CR, North KE, Bray MS, Couper DJ, Heiss G, Zeldin DC. Cyclooxygenase polymorphisms and risk of cardiovascular events: the Atherosclerosis Risk in Communities (ARIC) study. Clin Pharmacol Ther 2008; 83:52-60.

Lee YS, Kim H, Wu TX, Wang XM, Dionne RA. Genetically mediated interindividual variation in analgesic responses to cyclooxygenase inhibitory drugs. Clin Pharmacol Ther 2006; 79:407-18.

Li Y, He W, Liu T, Zhang Q. A new Cyclo-oxygenase-2 gene variant in the Han Chinese population is associated with an increased risk of gastric carcinoma. Mol Diagn Ther 2010; 14:351-5.

Liang Y, Liu JL, Wu Y, Zhang ZY, Wu R. Cyclooxygenase-2 polymorphisms and susceptibility to esophageal cancer: a meta-analysis. Tohoku J Exp Med 2011; 223:137-44.

Listì F, Caruso C, Lio D et al. Role of cyclooxygenase-2 and 5-lipoxygenase polymorphisms in Alzheimer’s disease in a population from northern Italy: implication for pharmacogenomics. J Alzheimers Dis 2010; 19:551-7.

Listì F, Caruso M, Incalcaterra E et al. Pro-inflammatory gene variants in myocardial infarction and longevity: implications for pharmacogenomics. Curr Pharm Des 2008; 14:2678-85.

Liu JL, Liang Y, Wang ZN, Zhou X, Xing LL. Cyclooxygenase-2 polymorphisms and susceptibility to gastric carcinoma: a meta-analysis. World J Gastroenterol 2010; 16:5510-7.

Ozhan G, Yanar TH, Ertekin C, Alpertunga B. The effect of genetic polymorphisms of cyclooxygenase 2 on acute pancreatitis in Turkey. Pancreas 2010; 39:371-6.

Pereira C, Pimentel-Nunes P, Brandão C, Moreira-Dias L, Medeiros R, Dinis-Ribeiro M. COX-2 polymorphisms and colorectal cancer risk: a strategy for chemoprevention. Eur J Gastroenterol Hepatol 2010; 22:607-13.

Skarke C, Reus M, Schmidt R et al. The cyclooxygenase 2 genetic variant -765G>C does not modulate the effects of celecoxib on prostaglandin E2 production. Clin Pharmacol Ther 2006; 80:621-32.

Skarke C, Schuss P, Kirchhof A, Doehring A, Geisslinger G, Lötsch J. Pyrosequencing of polymorphisms in the COX-2 gene (PTGS2) with reported clinical relevance. Pharmacogenomics 2007; 8:1643-60.

Srivastava K, Srivastava A, Kumar A, Mittal B. Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. PLoS One 2011. doi:10. 1371/journal. pone. 0016449.

Ulrich CM, Whitton J, Yu JH et al. PTGS2 (COX-2) -765G > C promoter variant reduces risk of colorectal adenoma among nonusers of nonsteroidal anti-inflammatory drugs. Cancer Epidemiol Biomarkers Prev 2005; 14:616-9.

Vogel U, Christensen J, Nexø BA, Wallin H, Friis S, Tjønneland A. Peroxisome proliferator-activated [corrected] receptor-gamma2 [corrected] Pro12Ala, interaction with alcohol intake and NSAID use, in relation to risk of breast cancer in a prospective study of Danes. Carcinogenesis 2007; 28:427-34.

Vogel U, Segel S, Dethlefsen C et al. Associations between COX-2 polymorphisms, blood cholesterol and risk of acute coronary syndrome. Atherosclerosis 2010; 209:155-62.

Wang CH, Wu KH, Yang YL et al. Association study of cyclooxygenase 2 single nucleotide polymorphisms and childhood acute lymphoblastic leukemia in Taiwan. Anticancer Res 2010; 30:3649-53.

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