Gene References


LCK (lymphocyte-specific protein tyrosine kinase)

Goldman FD, Ballas ZK, Schutte BC et al. Defective expression of p56lck in an infant with severe combined immunodeficiency. J Clin Invest 1998; 102:421-9.

Marti F, Garcia GG, Lapinski PE, MacGregor JN, King PD. Essential role of the T cell-specific adapter protein in the activation of LCK in peripheral T cells. J Exp Med 2006; 203:281-7.

Romagnoli P, Bron C. Defective TCR signaling events in glycosylphosphatidylinositol-deficient T cells derived from paroxysmal nocturnal hemoglobinuria patients. Int Immunol 1999; 11:1411-22.

Savas S, Geraci J, Jurisica I, Liu G. A comprehensive catalogue of functional genetic variations in the EGFR pathway: protein-protein interaction analysis reveals novel genes and polymorphisms important for cancer research. Int J Cancer 2009; 125:1257-65.

Zhong W, Yamagata HD, Taguchi K et al. Lymphocyte-specific protein tyrosine kinase is a novel risk gene for Alzheimer disease. J Neurol Sci 2005; 238:53-7.

LCT (lactase)

Campbell MC, Tishkoff SA. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet 2008; 9:403-33.

Corella D, Arregui M, Coltell O et al. Association of the LCT-13910C>T polymorphism with obesity and its modulation by dairy products in a Mediterranean population. Obesity 2011; 19:1707-14.

LDLR (low density lipoprotein receptor)

Arráiz N, Bermúdez V, Rondon N et al. Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population. Am J Ther 2010; 17:325-9.

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.

Candide C, Morlière P, Mazière JC et al. In vitro interaction of the photoactive anticancer porphyrin derivative photofrin II with low density lipoprotein, and its delivery to cultured human fibroblasts. FEBS Lett 1986; 207:133-8.

Garcia-Garcia AB, Blesa S, Martinez-Hervas S et al. Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization. Hum Mutat 2006; 27:822-8.

Gordts PL, Reekmans S, Lauwers A, van Dongen A, Verbeek L, Roebroek AJ. Inactivation of the LRP1 intracellular NPxYxxL motif in LDLR-deficient mice enhances postprandial dyslipidemia and atherosclerosis. Arterioscler Thromb Vasc Biol 2009; 29:1258-64.

Hamrefors V, Orho-Melander M, Krauss RM et al. A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women. J Lipid Res 2010; 51:625-34.

Hindorff LA, Lemaitre RN, Smith NL et al. Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke. Pharmacogenet Genomics 2008; 18:677-82.

Kathiresan S, Melander O, Anevski D et al. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med 2008; 358:1240-9.

Kathiresan S, Willer CJ, Peloso GM et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 2009; 41:56-65.

Kim J, Castellano JM, Jiang H et al. Overexpression of low-density lipoprotein receptor in the brain markedly inhibits amyloid deposition and increases extracellular A beta clearance. Neuron 2009; 64:632-44.

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.

Lo JC, Wang Y, Tumanov AV et al. Lymphotoxin beta receptor-dependent control of lipid homeostasis. Science 2007; 316:285-8.

Martinelli N, Girelli D, Lunghi B et al. Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile. Blood 2010; 116:5688-97.

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.

Polisecki E, Muallem H, Maeda N et al. Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER. Atherosclerosis 2008; 200:109-14.

Sabatti C, Service SK, Hartikainen AL et al. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet 2009; 41:35-46.

Sato K, Emi M, Ezura Y et al. Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred. J Hum Genet 2004; 49:29-34.

Thiart R, Scholtz CL, Vergotine J et al. Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. J Med Genet 2000; 37:514-9.

van Es T, van Puijvelde GH, Ramos OH et al. Attenuated atherosclerosis upon IL-17R signaling disruption in LDLr deficient mice. Biochem Biophys Res Commun 2009; 388:261-5.

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.

LEP (leptin)

Clement K, Boutin P, Froguel P. Genetics of obesity. Am J Pharmacogenomics 2002; 2:177-87.

Cleveland RJ, Gammon MD, Long CM et al. Common genetic variations in the LEP and LEPR genes, obesity and breast cancer incidence and survival. Breast Cancer Res Treat 2010; 120:745-52.

Ellingrod VL, Bishop JR, Moline J, Lin YC, Miller del D. Leptin and leptin receptor gene polymorphisms and increases in body mass index (BMI) from olanzapine treatment in persons with schizophrenia. Psychopharmacol Bull 2007; 40:57-62.

Fernández-Real JM, Casamitjana R, Ricart-Engel W. Leptin is involved in gender-related differences in insulin sensitivity. Clin Endocrinol 1998; 49:505-11.

Ge D, Gooljar SB, Kyriakou T et al. Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile. Obesity 2008; 16:492-6.

Jin H, Meyer JM, Mudaliar S, Jeste DV. Impact of atypical antipsychotic therapy on leptin, ghrelin, and adiponectin. Schizophr Res 2008; 100:70-85.

Liu HL, Lin YG, Wu J et al. Impact of genetic polymorphisms of leptin and TNF-alpha on rosiglitazone response in Chinese patients with type 2 diabetes. Eur J Clin Pharmacol 2008; 64:663-71.

O’Donnell CP, Tankersley CG, Polotsky VP, Schwartz AR, Smith PL. Leptin, obesity, and respiratory function. Respir Physiol 2000; 119:163-70.

Okpechi IG, Rayner BL, van der Merwe L et al. Genetic variation at selected SNPs in the leptin gene and association of alleles with markers of kidney disease in a Xhosa population of South Africa. PLoS One 2010. doi:10. 1371/journal. pone. 0009086.

Oral EA, Simha V, Ruiz E et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med 2002; 346:570-8.

Partida-Pérez M, de la Luz Ayala-Madrigal M, Peregrina-Sandoval J et al. Association of LEP and ADIPOQ common variants with colorectal cancer in Mexican patients. Cancer Biomark 2010; 7:117-21.

Srivastava V, Deshpande SN, Nimgaonkar VL, Lerer B, Thelma B. Genetic correlates of olanzapine-induced weight gain in schizophrenia subjects from north India: role of metabolic pathway genes. Pharmacogenomics 2008; 9:1055-68.

Swartz-Basile DA, Goldblatt MI, Ho Choi S et al. Biliary lipids and cholesterol crystal formation in leptin-deficient obese mice. HPB 2006; 8:386-92.

Veldhuis JD, Pincus SM, Garcia-Rudaz MC, Ropelato MG, Escobar ME, Barontini M. Disruption of the synchronous secretion of leptin, LH, and ovarian androgens in nonobese adolescents with the polycystic ovarian syndrome. J Clin Endocrinol Metab 2001; 86:3772-8.

Xiao SS, Xue M, Deng XL, Wan YJ. Peritoneal fluid leptin concentration and endocrine hormone in patients with polycystic ovarian syndrome. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2006; 31:786-91.

Ye XW, Xiao M, Ye J et al. The polymorphism -2548G/A in leptin and severity of chronic obstructive pulmonary disease. Int J Immunogenet 2011; 38:45-50.

Zhang XY, Tan YL, Zhou DF et al. Association of clozapine-induced weight gain with a polymorphism in the leptin promoter region in patients with chronic schizophrenia in a Chinese population. J Clin Psychopharmacol 2007; 27:246-51.

LEPR (leptin receptor)

Chua SC Jr, Liu SM, Li Q et al. Transgenic complementation of leptin receptor deficiency. II. Increased leptin receptor transgene dose effects on obesity/diabetes and fertility/lactation in lepr-db/db mice. Am J Physiol Endocrinol Metab 2004; 286:384-92.

Clément K, Vaisse C, Lahlou N et al. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998; 392:398-401.

Guízar-Mendoza JM, Amador-Licona N, Flores-Martínez SE, López-Cardona MG, Ahuatzin-Trémary R, Sánchez-Corona J. Association analysis of the Gln223Arg polymorphism in the human leptin receptor gene, and traits related to obesity in Mexican adolescents. J Hum Hypertens 2005; 19:341-6.

Kamdem LK, Hamilton L, Cheng C et al. Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. Pharmacogenet Genomics 2008; 18:507-14.

Kristiansen MT, Clausen LR, Nielsen S et al. Expression of leptin receptor isoforms and effects of leptin on the proliferation and hormonal secretion in human pituitary adenomas. Horm Res 2004; 62:129-36.

Masuo K, Straznicky NE, Lambert GW et al. Leptin-receptor polymorphisms relate to obesity through blunted leptin-mediated sympathetic nerve activation in a Caucasian male population. Hypertens Res 2008; 31:1093-100.

Murugesan D, Arunachalam T, Ramamurthy V, Subramanian S. Association of polymorphisms in leptin receptor gene with obesity and type 2 diabetes in the local population of Coimbatore. Indian J Hum Genet 2010; 16:72-7.

Quinton ND, Lee AJ, Ross RJ, Eastell R, Blakemore AI. A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women. Hum Genet 2001; 108:233-6.

Quinton ND, Meechan DW, Brown K, Eastwood H, Blakemore AI. Single nucleotide polymorphisms in the leptin receptor gene: studies in anorexia nervosa. Psychiatr Genet 2004; 14:191-4.

Richert L, Chevalley T, Manen D, Bonjour JP, Rizzoli R, Ferrari S. Bone mass in prepubertal boys is associated with a Gln223Arg amino acid substitution in the leptin receptor. J Clin Endocrinol Metab 2007; 92:4380-6.

Ridker PM, Pare G, Parker A et al. Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women’s Genome Health Study. Am J Hum Genet 2008; 82:1185-92.

Ross JA, Oeffinger KC, Davies SM et al. Genetic variation in the leptin receptor gene and obesity in survivors of childhood acute lymphoblastic leukemia: a report from the Childhood Cancer Survivor Study. J Clin Oncol 2004; 22:3558-62.

Saukko M, Kesäniemi YA, Ukkola O. Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early atherosclerosis. Metab Syndr Relat Disord 2010; 8:425-30.

Sone M, Osamura RY. Leptin and the pituitary. Pituitary 2001; 4:15-23.

Wauters M, Mertens I, Rankinen T, Chagnon M, Bouchard C, van Gaal L. Leptin receptor gene polymorphisms are associated with insulin in obese women with impaired glucose tolerance. J Clin Endocrinol Metab 2001; 86:3227-32.

LIPC (lipase, hepatic)

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.

Fiegenbaum M, da Silveira FR, van der Sand CR et al. Pharmacogenetic study of apolipoprotein E, cholesteryl ester transfer protein and hepatic lipase genes and simvastatin therapy in Brazilian subjects. Clin Chim Acta 2005; 362:182-8.

Grarup N, Andreasen CH, Andersen MK et al. The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects. J Clin Endocrinol Metab 2008; 93:2294-9.

Hamrefors V, Orho-Melander M, Krauss RM et al. A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women. J Lipid Res 2010; 51:625-34.

Hegele RA, Vezina C, Moorjani S et al. A hepatic lipase gene mutation associated with heritable lipolytic deficiency. J Clin Endocrinol Metab 1991; 72:730-2.

Hindorff LA, Lemaitre RN, Smith NL et al. Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke. Pharmacogenet Genomics 2008; 18:677-82.

Hodoglugil U, Williamson DW, Mahley RW. Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population. J Lipid Res 2010; 51:422-30.

Iijima H, Emi M, Wada M et al. Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. J Hum Genet 2008; 53:193-200.

Isaacs A, Sayed-Tabatabaei FA, Njajou OT, Witteman JC, van Duijn CM. The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis. J Clin Endocrinol Metab 2004; 89:3858-63.

Neale BM, Fagerness J, Reynolds R et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci USA 2010; 107:7395-400.

Ordovas JM, Corella D, Demissie S et al. Dietary fat intake determines the effect of a common polymorphism in the hepatic lipase gene promoter on high-density lipoprotein metabolism: evidence of a strong dose effect in this gene-nutrient interaction in the Framingham Study. Circulation 2002; 106:2315-21.

Todorova B, Kubaszek A, Pihlajamäki J et al. The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish Diabetes Prevention Study. J Clin Endocrinol Metab 2004; 89:2019-23.

Zhang C, Lopez-Ridaura R, Rimm EB, Rifai N, Hunter DJ, Hu FB. Interactions between the -514C->T polymorphism of the hepatic lipase gene and lifestyle factors in relation to HDL concentrations among US diabetic men. Am J Clin Nutr 2005; 81:1429-35.

LOXL1 (lysyl oxidase-like 1)

Bronson NW, Hamilton JS, Han M et al. LOXL null mice demonstrate selective dentate structural changes but maintain dentate granule cell and CA1 pyramidal cell potentiation in the hippocampus. Neurosci Lett 2005; 390:118-22.

Kim Y, Roh S, Park JY, Kim Y, Cho DH, Kim JC. Differential expression of the LOX family genes in human colorectal adenocarcinomas. Oncol Rep 2009; 22:799-804.

Pischon N, Mäki JM, Weisshaupt P et al. Lysyl oxidase (lox) gene deficiency affects osteoblastic phenotype. Calcif Tissue Int 2009; 85:119-26.

Thorleifsson G, Magnusson KP, Sulem P et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317:1397-400.

Wood HM, Lee UJ, Vurbic D et al. Sexual development and fertility of Loxl1-/- male mice. J Androl 2009; 30:452-9.

Wu G, Guo Z, Chang X et al. LOXL1 and LOXL4 are epigenetically silenced and can inhibit ras/extracellular signal-regulated kinase signaling pathway in human bladder cancer. Cancer Res 2007; 67:4123-9.

LPL (lipoprotein lipase)

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.

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.

Brousseau ME, Goldkamp AL, Collins D et al. Polymorphisms in the gene encoding lipoprotein lipase in men with low HDL-C and coronary heart disease: the Veterans Affairs HDL Intervention Trial. J Lipid Res 2004; 45:1885-91.

Chen W, Stambolian D, Edwards AO et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 2010; 107:7401-6.

Chien KL, Lin YL, Wen HC et al. Common sequence variant in lipoprotein lipase gene conferring triglyceride response to fibrate treatment. Pharmacogenomics 2009; 10:267-76.

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.

Garenc C, Aubert S, Laroche J et al. Gene polymorphisms in the Quebec population: a risk to develop hypertriglyceridemia. Biochem Biophys Res Commun 2006; 344:588-96.

Goodarzi MO, Guo X, Taylor KD et al. Determination and use of haplotypes: ethnic comparison and association of the lipoprotein lipase gene and coronary artery disease in Mexican-Americans. Genet Med 2003; 5:322-7.

Huang AQ, Hu YH, Zhan SY et al. Lipoprotein lipase gene S447X polymorphism modulates the relation between central obesity and serum lipids, a twin study. Int J Obes 2006; 30:1693-701.

Spirin V, Schmidt S, Pertsemlidis A, Cooper RS, Cohen JC, Sunyaev SR. Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. Am J Hum Genet 2007; 81:1298-303.

Tang W, Apostol G, Schreiner PJ, Jacobs DR Jr, Boerwinkle E, Fornage M. Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study. Circ Cardiovasc Genet 2010; 3:179-86.

Taylor KD, Scheuner MT, Yang H et al. Lipoprotein lipase locus and progression of atherosclerosis in coronary-artery bypass grafts. Genet Med 2004; 6:481-6.

LRRK2 (leucine-rich repeat kinase 2)

Chang XL, Mao XY, Li HH et al. Association of GWAS loci with PD in China. Am J Med Genet B Neuropsychiatr Genet 2011; 156:334-9.

Li Y, Liu W, Oo TF et al. Mutant LRRK2(R1441G) BAC transgenic mice recapitulate cardinal features of Parkinson’s disease. Nat Neurosci 2009; 12:826-8.

Lin X, Parisiadou L, Gu XL et al. Leucine-rich repeat kinase 2 regulates the progression of neuropathology induced by Parkinson’s-disease-related mutant alpha-synuclein. Neuron 2009; 64:807-27.

Ng CH, Mok SZ, Koh C et al. Parkin protects against LRRK2 G2019S mutant-induced dopaminergic neurodegeneration in Drosophila. J Neurosci 2009; 29:11257-62.

Saha S, Guillily MD, Ferree A et al. LRRK2 modulates vulnerability to mitochondrial dysfunction in Caenorhabditis elegans. J Neurosci 2009; 29:9210-8.

Simón-Sánchez J, Schulte C, Bras JM et al. Genome-wide association study reveals genetic risk underlying Parkinson’s disease. Nat Genet 2009; 41:1308-12.

Zhang FR, Huang W, Chen SM et al. Genomewide association study of leprosy. N Engl J Med 2009; 361:2609-18.

LTA (lymphotoxin alpha (TNF superfamily, member 1))

Criswell LA, Lum RF, Turner KN et al. The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept. Arthritis Rheum 2004; 50:2750-6.

Dideberg V, Louis E, Farnir F et al. Lymphotoxin alpha gene in Crohn’s disease patients: absence of implication in the response to infliximab in a large cohort study. Pharmacogenet Genomics 2006; 16:369-73.

Fernandes Filho JA, Vedeler CA, Myhr KM, Nyland H, Pandey JP. TNF-alpha and -beta gene polymorphisms in multiple sclerosis: a highly significant role for determinants in the first intron of the TNF-beta gene. Autoimmunity 2002; 35:377-80.

Kamali-Sarvestani E, Nikseresht A, Aflaki E, Sarvari J, Gharesi-Fard B. TNF-alpha, TNF-beta and IL-4 gene polymorphisms in Iranian patients with multiple sclerosis. Acta Neurol Scand 2007; 115:161-6.

Liu X, Plummer SJ, Nock NL, Casey G, Witte JS. Nonsteroidal antiinflammatory drugs and decreased risk of advanced prostate cancer: modification by lymphotoxin alpha. Am J Epidemiol 2006; 164:984-9.

McCusker SM, Curran MD, Dynan KB et al. Association between polymorphism in regulatory region of gene encoding tumour necrosis factor alpha and risk of Alzheimer’s disease and vascular dementia: a case-control study. Lancet 2001; 357:436-9.

Navikas V, He B, Link J et al. Augmented expression of tumour necrosis factor-alpha and lymphotoxin in mononuclear cells in multiple sclerosis and optic neuritis. Brain 1996; 119:213-23.

Ovsyannikova IG, Vierkant RA, Pankratz VS, Jacobson RM, Poland GA. Extended LTA, TNF, LST1 and HLA gene haplotypes and their association with rubella vaccine-induced immunity. PLoS One 2010. doi:10. 1371/journal. pone. 0011806.

Pankratz VS, Vierkant RA, O’Byrne MM, Ovsyannikova IG, Poland GA. Associations between SNPs in candidate immune-relevant genes and rubella antibody levels: a multigenic assessment. BMC Immunol 2010; 11:48.

Phillips CM, Goumidi L, Bertrais S et al. Additive effect of polymorphisms in the IL-6, LTA, and TNF-{alpha} genes and plasma fatty acid level modulate risk for the metabolic syndrome and its components. J Clin Endocrinol Metab 2010; 95:1386-94.

Rojas J, Fernandez I, Pastor JC et al. A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: the retina 4 project. Ophthalmology 2010; 117:2417-23.

Skibola CF, Bracci PM, Nieters A et al. Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium. Am J Epidemiol 2010; 171:267-76.

LTA4H (leukotriene A4 hydrolase)

Byrum RS, Goulet JL, Snouwaert JN, Griffiths RJ, Koller BH. Determination of the contribution of cysteinyl leukotrienes and leukotriene B4 in acute inflammatory responses using 5-lipoxygenase- and leukotriene A4 hydrolase-deficient mice. J Immunol 1999; 163:6810-9.

Duroudier NP, Tulah AS, Sayers I. Leukotriene pathway genetics and pharmacogenetics in allergy. Allergy 2009; 64:823-39.

Hartiala J, Li D, Conti DV et al. Genetic contribution of the leukotriene pathway to coronary artery disease. Hum Genet 2011; 129:617-27.

Helgadottir A, Manolescu A, Helgason A et al. A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet 2006; 38:68-74.

Holloway JW, Barton SJ, Holgate ST, Rose-Zerilli MJ, Sayers I. The role of LTA4H and ALOX5AP polymorphism in asthma and allergy susceptibility. Allergy 2008; 63:1046-53.

Lima JJ, Blake KV, Tantisira KG, Weiss ST. Pharmacogenetics of asthma. Curr Opin Pulm Med 2009; 15:57-62.

Miyahara N, Ohnishi H, Miyahara S et al. Leukotriene B4 release from mast cells in IgE-mediated airway hyperresponsiveness and inflammation. Am J Respir Cell Mol Biol 2009; 40:672-82.

Tantisira KG, Lima J, Sylvia J, Klanderman B, Weiss ST. 5-lipoxygenase pharmacogenetics in asthma: overlap with Cys-leukotriene receptor antagonist loci. Pharmacogenet Genomics 2009; 19:244-7.

LTC4S (leukotriene C4 synthase)

Ago H, Kanaoka Y, Irikura D et al. Crystal structure of a human membrane protein involved in cysteinyl leukotriene biosynthesis. Nature 2007; 448:609-12.

Duroudier NP, Tulah AS, Sayers I. Leukotriene pathway genetics and pharmacogenetics in allergy. Allergy 2009; 64:823-39.

Goulet JL, Snouwaert JN, Latour AM, Coffman TM, Koller BH. Altered inflammatory responses in leukotriene-deficient mice. Proc Natl Acad Sci USA 1994; 91:12852-6.

Lima JJ, Zhang S, Grant A et al. Influence of leukotriene pathway polymorphisms on response to montelukast in asthma. Am J Respir Crit Care Med 2006; 173:379-85.

Martinez Molina D, Wetterholm A, Kohl A et al. Structural basis for synthesis of inflammatory mediators by human leukotriene C4 synthase. Nature 2007; 448:613-16.

Mastalerz L, Setkowicz M, Sanak M, Rybarczyk H, Szczeklik A. Familial aggregation of aspirin-induced urticaria and leukotriene C synthase allelic variant. Br J Dermatol 2006; 154:256-60.

Sanak M, Simon HU, Szczeklik A. Leukotriene C4 synthase promoter polymorphism and risk of aspirin-induced asthma. Lancet 1997; 350:1599-600.

Sánchez-Borges M, Acevedo N, Vergara C et al. The A-444C polymorphism in the leukotriene C4 synthase gene is associated with aspirin-induced urticaria. J Investig Allergol Clin Immunol 2009; 19:375-82.

Weiss ST, Litonjua AA, Lange C et al. Overview of the pharmacogenetics of asthma treatment. Pharmacogenomics J 2006; 6:311-26.