Gene References


ICAM1 (intercellular adhesion molecule 1)

Aghajanpour L, Mashayekhi F, Rajaei F. Intercellular adhesion molecule-1 (ICAM-1) gene polymorphism and endometriosis in northern Iran. Arch Gynecol Obstet 2011; 283:1035-9.

Ben Dhifallah I, Karray EF, Sassi F, Hamzaoui K. Intercellular adhesion molecule 1 K469E gene polymorphism is associated with presence of skin lesions in Tunisian Behçet’s disease patients. Tissue Antigens 2010; 75:74-8.

Borozdenkova S, Smith J, Marshall S, Yacoub M, Rose M. Identification of ICAM-1 polymorphism that is associated with protection from transplant associated vasculopathy after cardiac transplantation. Hum Immunol 2001; 62:247-55.

Chen H, Hernandez W, Shriver MD, Ahaghotu CA, Kittles RA. ICAM gene cluster SNPs and prostate cancer risk in African Americans. Hum Genet 2006; 120:69-76.

Cimino L, Boiardi L, Aldigeri R et al. G/R 241 polymorphism of intercellular adhesion molecule 1 (ICAM-1) is associated with Fuchs uveitis. Invest Ophthalmol Vis Sci 2010; 51:4447-50.

Fernandez-Reyes D, Craig AG, Kyes SA et al. A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya. Hum Mol Genet 1997; 6:1357-60.

Hosek J, Bartosová L, Gregor P et al. Frequency of representative single nucleotide polymorphisms associated with inflammatory bowel disease in the Czech Republic and Slovak Republic. Folia Biol 2008; 54:88-96.

Hsu LA, Chang CJ, Wu S et al. Association between functional variants of the ICAM1 and CRP genes and metabolic syndrome in Taiwanese subjects. Metabolism 2010; 59:1710-6.

Ito A, Miyake M, Morishita M, Ito K, Torii S, Sakamoto T. Dexamethasone reduces lung eosinophilia, and VCAM-1 and ICAM-1 expression induced by Sephadex beads in rats. Eur J Pharmacol 2003; 468:59-66.

Klinkhardt U, Bauersachs R, Adams J, Graff J, Lindhoff-Last E, Harder S. Clopidogrel but not aspirin reduces P-selectin expression and formation of platelet-leukocyte aggregates in patients with atherosclerotic vascular disease. Clin Pharmacol Ther 2003; 73:232-41.

Kretowski A, Wawrusiewicz N, Mironczuk K, Mysliwiec J, Kretowska M, Kinalska I. Intercellular adhesion molecule 1 gene polymorphisms in Graves’ disease. J Clin Endocrinol Metab 2003; 88:4945-9.

Mohamed AA, Rashed L, Amin H, Abu-Farha M, El Fadl SA, Pakhoum S. K469E polymorphism of the intercellular adhesion molecule-1 gene in Egyptians with coronary heart disease. Ann Saudi Med 2010; 30:432-6.

Petrovic MG, Osredkar J, Saraga-Babić M, Petrovic D. K469E polymorphism of the intracellular adhesion molecule 1 gene is associated with proliferative diabetic retinopathy in Caucasians with type 2 diabetes. Clin Experiment Ophthalmol 2008; 36:468-72.

Shaker O, Zahra A, Sayed A et al. Role of ICAM-1 and E-selectin gene polymorphisms in pathogenesis of PAOD in Egyptian patients. Vasc Health Risk Manag 2010; 6:9-15.

Stelmach I, Jerzynska J, Kuna P. A randomized, double-blind trial of the effect of treatment with montelukast on bronchial hyperresponsiveness and serum eosinophilic cationic protein (ECP), soluble interleukin 2 receptor (sIL-2R), IL-4, and soluble intercellular adhesion molecule 1 (sICAM-1) in children with asthma. J Allergy Clin Immunol 2002; 109:257-63.

Wang QL, Li BH, Liu B et al. Polymorphisms of the ICAM-1 exon 6 (E469K) are associated with differentiation of colorectal cancer. J Exp Clin Cancer Res 2009; 28:139.

IFNA1 (interferon, alpha 1)

Chen ZH, Zhang H, Savarese TM. Gene deletion chemoselectivity: codeletion of the genes for p16(INK4), methylthioadenosine phosphorylase, and the alpha- and beta-interferons in human pancreatic cell carcinoma lines and its implications for chemotherapy. Cancer Res 1996; 56:1083-90.

Colamonici OR, Domanski P, Platanias LC, Diaz MO. Correlation between interferon (IFN) alpha resistance and deletion of the IFN alpha/beta genes in acute leukemia cell lines suggests selection against the IFN system. Blood 1992; 80:744-9.

Elazar M, Liu M, McKenna SA et al. The anti-hepatitis C agent nitazoxanide induces phosphorylation of eukaryotic initiation factor 2alpha via protein kinase activated by double-stranded RNA activation. Gastroenterology 2009; 137:1827-35.

Golovleva I, Biasotto M, Verpy E et al. Novel variants of human IFN-alpha detected in tumor cell lines and biopsy specimens. J Interferon Cytokine Res 1997; 17:637-45.

Hirankarn N, Tangwattanachuleeporn M, Wongpiyabovorn J, Wongchinsri J, Avihingsanon Y. Genetic association of interferon-alpha subtypes 1, 2 and 5 in systemic lupus erythematosus. Tissue Antigens 2008; 72:588-92.

IFNB1 (interferon, beta 1, fibroblast)

Chen ZH, Zhang H, Savarese TM. Gene deletion chemoselectivity: codeletion of the genes for p16(INK4), methylthioadenosine phosphorylase, and the alpha- and beta-interferons in human pancreatic cell carcinoma lines and its implications for chemotherapy. Cancer Res 1996; 56:1083-90.

Colamonici OR, Domanski P, Platanias LC, Diaz MO. Correlation between interferon (IFN) alpha resistance and deletion of the IFN alpha/beta genes in acute leukemia cell lines suggests selection against the IFN system. Blood 1992; 80:744-9.

Hu J, Iyer-Biswas S, Sealfon SC, Wetmur J, Jayaprakash C, Hayot F. Power-laws in interferon-B mRNA distribution in virus-infected dendritic cells. Biophys J 2009; 97:1984-9.

Morris GA, Lowe CE, Cooper JD et al. Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes. BMC Genet 2006; 7:12.

IFNG (interferon, gamma)

An P, Vlahov D, Margolick JB et al. A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals. J Infect Dis 2003; 188:228-31.

Cardoso CC, Pereira AC, Brito-de-Souza VN et al. IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians. Hum Genet 2010; 128:481-90.

Dabora SL, Roberts P, Nieto A et al. Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. Am J Hum Genet 2002; 71:750-8.

Dufour C, Capasso M, Svahn J et al. Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population. Br J Haematol 2004; 126:682-5.

Gao N, Qiao HL, Jia LJ, Tian X, Zhang YW. Relationships between specific serum IgE, IgG, IFN-gamma level and IFN-gamma, IFNR1 polymorphisms in patients with penicillin allergy. Eur J Clin Pharmacol 2008; 64:971-7.

Huang Y, Yang H, Borg BB et al. A functional SNP of interferon-gamma gene is important for interferon-alpha-induced and spontaneous recovery from hepatitis C virus infection. Proc Natl Acad Sci USA 2007; 104:985-90.

Kantarci OH, Hebrink DD, Schaefer-Klein J et al. Interferon gamma allelic variants: sex-biased multiple sclerosis susceptibility and gene expression. Arch Neurol 2008; 65:349-57.

Kim DH, Kong JH, Byeun JY et al. The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia. Clin Cancer Res 2010; 16:5339-50.

King VL, Lin AY, Kristo F et al. Interferon-gamma and the interferon-inducible chemokine CXCL10 protect against aneurysm formation and rupture. Circulation 2009; 119:426-35.

Miyake K, Nakashima H, Akahoshi M et al. Genetically determined interferon-gamma production influences the histological phenotype of lupus nephritis. Rheumatology 2002; 41:518-24.

Morrison BA, Ucisik-Akkaya E, Flores H, Alaez C, Gorodezky C, Dorak MT. Multiple sclerosis risk markers in HLA-DRA, HLA-C, and IFNG genes are associated with sex-specific childhood leukemia risk. Autoimmunity 2010; 43:690-7.

Nakao F, Ihara K, Kusuhara K et al. Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma. J Allergy Clin Immunol 2001; 107:499-504.

Pacheco AG, Cardoso CC, Moraes MO. IFNG +874T/A, IL10 -1082G/A and TNF -308G/A polymorphisms in association with tuberculosis susceptibility: a meta-analysis study. Hum Genet 2008; 123:477-84.

Wang SS, Gonzalez P, Yu K et al. Common genetic variants and risk for HPV persistence and progression to cervical cancer. PLoS One 2010. doi:10. 1371/journal. pone. 0008667.

IGF1 (insulin-like growth factor 1 (somatomedin C))

Agudo J, Ayuso E, Jimenez V et al. IGF-I mediates regeneration of endocrine pancreas by increasing beta cell replication through cell cycle protein modulation in mice. Diabetologia 2008; 51:1862-72.

Bonapace G, Concolino D, Formicola S, Strisciuglio P. A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet 2003; 40:913-7.

Dong X, Javle M, Hess KR, Shroff R, Abbruzzese JL, Li D. Insulin-like growth factor axis gene polymorphisms and clinical outcomes in pancreatic cancer. Gastroenterology 2010; 139:464-73.

Feik E, Baierl A, Hieger B et al. Association of IGF1 and IGFBP3 polymorphisms with colorectal polyps and colorectal cancer risk. Cancer Causes Control 2010; 21:91-7.

Olivo-Marston SE, Hursting SD, Lavigne J et al. Genetic reduction of circulating insulin-like growth factor-1 inhibits azoxymethane-induced colon tumorigenesis in mice. Mol Carcinog 2009; 48:1071-6.

Pereira AC, McQuillin A, Puri V et al. Genetic association and sequencing of the insulin-like growth factor 1 gene in bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2011; 156:177-87.

Rodriguez S, Gaunt TR, Day IN. Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease. Hum Genet 2007; 122:1-21.

Schumacher FR, Cheng I, Freedman ML et al. A comprehensive analysis of common IGF1, IGFBP1 and IGFBP3 genetic variation with prospective IGF-I and IGFBP-3 blood levels and prostate cancer risk among Caucasians. Hum Mol Genet 2010; 19:3089-101.

Walenkamp MJ, Karperien M, Pereira AM et al. Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005; 90:2855-64.

Woods KA, Camacho-Hübner C, Savage MO, Clark AJ. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996; 335:1363-7.

IGF2 (insulin-like growth factor 2 (somatomedin A))

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.

Grønskov K, Poole RL, Hahnemann JM et al. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. J Med Genet 2011; 48:308-11.

Harper J, Burns JL, Foulstone EJ, Pignatelli M, Zaina S, Hassan AB. Soluble IGF2 receptor rescues Apc(Min/+) intestinal adenoma progression induced by Igf2 loss of imprinting. Cancer Res 2006; 66:1940-8.

Kaur R, Nagpal JK, Das BR. Polymorphism in IGF-2 as a surrogate marker for predisposition towards tobacco chewing-mediated oral cancer. Tumour Biol 2005; 26:147-52.

Ober C, Xiang KS, Thisted RA, Indovina KA, Wason CJ, Dooley S. Increased risk for gestational diabetes mellitus associated with insulin receptor and insulin-like growth factor II restriction fragment length polymorphisms. Genet Epidemiol 1989; 6:559-69.

Riccio A, Sparago A, Verde G et al. Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms’ tumor. Endocr Dev 2009; 14:1-9.

Sullivan KA, Castle VP, Hanash SM, Feldman EL. Insulin-like growth factor II in the pathogenesis of human neuroblastoma. Am J Pathol 1995; 147:1790-8.

IL1B (interleukin 1, beta)

Baune BT, Dannlowski U, Domschke K et al. The interleukin 1 beta (IL1B) gene is associated with failure to achieve remission and impaired emotion processing in major depression. Biol Psychiatry 2010; 67:543-9.

El-Omar EM, Carrington M, Chow WH et al. Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature t 2000; 404:398-402.

Green EK, Harris JM, Lemmon H et al. Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD? Neurology 2002; 58:1566-8.

Guo ZS, Li C, Lin ZM et al. Association of IL-1 gene complex members with ankylosing spondylitis in Chinese Han population. Int J Immunogenet 2010; 37:33-7.

Hahn WH, Cho BS, Kim SD, Kim SK, Kang S. Interleukin-1 cluster gene polymorphisms in childhood IgA nephropathy. Pediatr Nephrol 2009; 24:1329-36.

Hamajima N, Matsuo K, Saito T et al. Interleukin 1 polymorphisms, lifestyle factors, and Helicobacter pylori infection. Jpn J Cancer Res 2001; 92:383-9.

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.

Jones LK, O’Sullivan KM, Semple T et al. IL-1RI deficiency ameliorates early experimental renal interstitial fibrosis. Nephrol Dial Transplant 2009; 24:3024-32.

Landvik NE, Hart K, Skaug V, Stangeland LB, Haugen A, Zienolddiny S. A specific interleukin-1B haplotype correlates with high levels of IL1B mRNA in the lung and increased risk of non-small cell lung cancer. Carcinogenesis 2009; 30:1186-92.

Langdahl BL, Løkke E, Carstens M, Stenkjaer LL, Eriksen EF. Osteoporotic fractures are associated with an 86-base pair repeat polymorphism in the interleukin-1-receptor antagonist gene but not with polymorphisms in the interleukin-1beta gene. J Bone Miner Res 2000; 15:402-14.

Levy H, Murphy A, Zou F et al. IL1B polymorphisms modulate cystic fibrosis lung disease. Pediatr Pulmonol 2009; 44:580-93.

Lurje G, Hendifar AE, Schultheis AM et al. Polymorphisms in interleukin 1 beta and interleukin 1 receptor antagonist associated with tumor recurrence in stage II colon cancer. Pharmacogenet Genomics 2009; 19:95-102.

Mattila KM, Rinne JO, Lehtimäki T, Röyttä M, Ahonen JP, Hurme M. Association of an interleukin 1B gene polymorphism (-511) with Parkinson’s disease in Finnish patients. J Med Genet 2002; 39:400-2.

Mookherjee S, Banerjee D, Chakraborty S et al. Association of IL1A and IL1B loci with primary open angle glaucoma. BMC Med Genet 2010; 11:99.

Mwantembe O, Gaillard MC, Barkhuizen M et al. Ethnic differences in allelic associations of the interleukin-1 gene cluster in South African patients with inflammatory bowel disease (IBD) and in control individuals. Immunogenetics 2001; 52:249-54.

Qian N, Chen X, Han S et al. Circulating IL-1beta levels, polymorphisms of IL-1B, and risk of cervical cancer in Chinese women. J Cancer Res Clin Oncol 2010; 136:709-16.

Ríos DL, Cerqueira CC, Bonfim-Silva R et al. Interleukin-1 beta and interleukin-6 gene polymorphism associations with angiographically assessed coronary artery disease in Brazilians. Cytokine 2010; 50:292-6.

Solovieva S, Kämäräinen OP, Hirvonen A et al. Association between interleukin 1 gene cluster polymorphisms and bilateral distal interphalangeal osteoarthritis. J Rheumatol 2009; 36:1977-86.

Xu M, He L. Convergent evidence shows a positive association of interleukin-1 gene complex locus with susceptibility to schizophrenia in the Caucasian population. Schizophr Res 2010; 120:131-42.

Yoo EJ, Park SY, Cho NY et al. Influence of IL1B polymorphism on CpG island hypermethylation in Helicobacter pylori-infected gastric cancer. Virchows Arch 2010; 456:647-52.

IL1RN (interleukin 1 receptor antagonist)

Aksentijevich I, Masters SL, Ferguson PJ et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 2009; 360:2426-37.

Baradaran-Rahimi H, Radvar M, Arab HR, Tavakol-Afshari J, Ebadian AR. Association of interleukin-1 receptor antagonist gene polymorphisms with generalized aggressive periodontitis in an Iranian population. J Periodontol 2010; 81:1342-6.

Blakemore AI, Cox A, Gonzalez AM et al. Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus. Hum Genet 1996; 97:369-74.

Carrol ED, Payton A, Payne D et al. The IL1RN promoter rs4251961 correlates with IL-1 receptor antagonist concentrations in human infection and is differentially regulated by GATA-1. J Immunol 2011; 186:2329-35.

Chida D, Hashimoto O, Kuwahara M et al. Increased fat:carbohydrate oxidation ratio in Il1ra (-/-) mice on a high-fat diet is associated with increased sympathetic tone. Diabetologia 2008; 51:1698-706.

Chou IC, Lin HC, Wang CH et al. Polymorphisms of interleukin 1 gene IL1RN are associated with Tourette syndrome. Pediatr Neurol 2010; 42:320-4.

Chourasia D, Achyut BR, Tripathi S, Mittal B, Mittal RD, Ghoshal UC. Genotypic and functional roles of IL-1B and IL-1RN on the risk of gastroesophageal reflux disease: the presence of IL-1B-511*T/IL-1RN*1 (T1) haplotype may protect against the disease. Am J Gastroenterol 2009; 104:2704-13.

Corleto VD, Pagnini C, Margagnoni G et al. IL-1beta-511 and IL-1RN*2 polymorphisms in inflammatory bowel disease: An Italian population study and meta-analysis of European studies. Dig Liver Dis 2010; 42:179-84.

Cruz-Robles D, Chávez-González JP, Cavazos-Quero MM, Pérez-Méndez O, Reyes PA, Vargas-Alarcón G. Association between IL-1B and IL-1RN gene polymorphisms and Chagas’ disease development susceptibility. Immunol Invest 2009; 38:231-9.

El-Omar EM, Carrington M, Chow WH et al. Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 2000; 404:398-402.

Gromadzka G, Członkowska A. Influence of IL-1RN intron 2 variable number of tandem repeats (VNTR) polymorphism on the age at onset of neuropsychiatric symptoms in Wilson’s disease. Int J Neurosci 2011; 121:8-15.

Highet AR, Gibson CS, Goldwater PN. Variant interleukin 1 receptor antagonist gene alleles in sudden infant death syndrome. Arch Dis Child 2010; 95:1009-12.

Jung MY, Kang SW, Kim SK et al. The interleukin-1 family gene polymorphisms in Korean patients with rheumatoid arthritis. Scand J Rheumatol 2010; 39:190-6.

Jung YO, Cho ML, Lee SY et al. Synergism of toll-like receptor 2 (TLR2), TLR4, and TLR6 ligation on the production of tumor necrosis factor (TNF)-alpha in a spontaneous arthritis animal model of interleukin (IL)-1 receptor antagonist-deficient mice. Immunol Lett 2009; 123:138-43.

Langdahl BL, Løkke E, Carstens M, Stenkjaer LL, Eriksen EF. Osteoporotic fractures are associated with an 86-base pair repeat polymorphism in the interleukin-1-receptor antagonist gene but not with polymorphisms in the interleukin-1beta gene. J Bone Miner Res 2000; 15:402-14.

Lee BC, Lee H, Park HK, Yang JS, Chung JH. Susceptibility for ischemic stroke in four constitution medicine is associated with polymorphisms of FCGR2A and IL1RN genes. Neurol Res 2010; 32 Suppl 1:43-7.

Lee SH, Ihm CG, Sohn SD et al. Polymorphisms in interleukin-1 beta and Interleukin-1 receptor antagonist genes are associated with kidney failure in Korean patients with type 2 diabetes mellitus. Am J Nephrol 2004; 24:410-4.

Meulenbelt I, Bos SD, Kloppenburg M et al. Interleukin-1 gene cluster variants with innate cytokine production profiles and osteoarthritis in subjects from the Genetics, Osteoarthritis and Progression Study. Arthritis Rheum 2010; 62:1119-26.

Oh IH, Oh C, Kim HJ et al. Genetic associations of IL1RN polymorphisms with metabolic syndrome in a Korean population. Exp Clin Endocrinol Diabetes 2010; 118:333-7.

Ray KK, Francis S, Crossman DC. A potential pharmacogenomic strategy for anticoagulant treatment in non-ST elevation acute coronary syndromes: the role of interleukin-1 receptor antagonist genotype. J Thromb Haemost 2005; 3:287-91.

Rocha AM, de Souza C, Rocha GA et al. IL1RN VNTR and IL2-330 polymorphic genes are independently associated with chronic immune thrombocytopenia. Br J Haematol 2010; 150:679-84.

Schrijver HM, Crusius JB, Uitdehaag BM et al. Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in MS. Neurology 1999; 52:595-9.

Swellam M, Mahmoud MS, Samy N, Gamal AA. Potential influence of interleukin-1 receptor antagonist gene polymorphism on knee osteoarthritis risk. Dis Markers 2010; 28:299-305.

Szabó K, Tax G, Kis K et al. Interleukin-1A +4845(G> T) polymorphism is a factor predisposing to acne vulgaris. Tissue Antigens 2010; 76:411-5.

IL2 (interleukin 2)

Boumpas DT, Anastassiou ED, Older SA, Tsokos GC, Nelson DL, Balow JE. Dexamethasone inhibits human interleukin 2 but not interleukin 2 receptor gene expression in vitro at the level of nuclear transcription. J Clin Invest 1991; 87:1739-47.

Cavanillas ML, Alcina A, Núñez C et al. Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk. Eur J Hum Genet 2010; 18:794-9.

Corrigan CJ, Brown PH, Barnes NC, Tsai JJ, Frew AJ, Kay AB. Glucocorticoid resistance in chronic asthma. Peripheral blood T lymphocyte activation and comparison of the T lymphocyte inhibitory effects of glucocorticoids and cyclosporin A. Am Rev Respir Dis 1991; 144:1026-32.

Dhiman N, Ovsyannikova IG, Cunningham JM et al. Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes. J Infect Dis 2007; 195:21-9.

Hinks A, Eyre S, Ke X et al. Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. Genes Immun 2010; 11:194-8.

Khan AA, Priya S, Saha B. IL-2 regulates SEB induced toxic shock syndrome in BALB/c mice. PLoS One 2009. doi:10. 1371/journal. pone. 0008473.

Márquez A, Orozco G, Martínez A et al. Novel association of the interleukin 2-interleukin 21 region with inflammatory bowel disease. Am J Gastroenterol 2009; 104:1968-75.

Mattioli B, Giordani L, Quaranta MG, Viora M. Effect of indinavir used alone or in double or triple combination with AZT and ddC on human immune functions. Life Sci 2004; 74:2291-300.

Pawlik A, Kurzawski M, Florczak M, Gawronska Szklarz B, Herczyńska M. IL1beta+3953 exon 5 and IL-2 -330 promoter polymorphisms in patients with rheumatoid arthritis. Clin Exp Rheumatol 2005; 23:159-64.

Queiroz DM, Saraiva IE, Rocha GA et al. IL2-330G polymorphic allele is associated with decreased risk of Helicobacter pylori infection in adulthood. Microbes Infect 2009; 11:980-7.

Rausch-Fan X, Leutmezer F, Willheim M et al. Regulation of cytokine production in human peripheral blood mononuclear cells and allergen-specific th cell clones by 1alpha,25-dihydroxyvitamin D3. Int Arch Allergy Immunol 2002; 128:33-41.

Rocha AM, de Souza C, Rocha GA et al. IL1RN VNTR and IL2-330 polymorphic genes are independently associated with chronic immune thrombocytopenia. Br J Haematol 2010; 150:679-84.

Stallhofer J, Denk GU, Glas J et al. Analysis of IL2/IL21 gene variants in cholestatic liver diseases reveals an association with primary sclerosing cholangitis. Digestion 2011; 84:29-35.

van Heel DA, Franke L, Hunt KA et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 2007; 39:827-9.

Zheng L, Sharma R, Gaskin F, Fu SM, Ju ST. A novel role of IL-2 in organ-specific autoimmune inflammation beyond regulatory T cell checkpoint: both IL-2 knockout and Fas mutation prolong lifespan of Scurfy mice but by different mechanisms. J Immunol 2007; 179:8035-41.

IL4 (interleukin 4)

Anovazzi G, Kim YJ, Viana AC et al. Polymorphisms and haplotypes in the interleukin-4 gene are associated with chronic periodontitis in a Brazilian population. J Periodontol 2010; 81:392-402.

Beckers MM, Ruven HJ, Haas FJ et al. Single nucleotide polymorphisms in inflammation-related genes are associated with venous thromboembolism. Eur J Intern Med 2010; 21:289-92.

Berce V, Potocnik U. Association of Q551R polymorphism in the interleukin 4 receptor gene with nonatopic asthma in Slovenian children. Wien Klin Wochenschr 2010; 122 Suppl 2:11-8.

Hunt PJ, Marshall SE, Weetman AP, Bell JI, Wass JA, Welsh KI. Cytokine gene polymorphisms in autoimmune thyroid disease. J Clin Endocrinol Metab 2000; 85:1984-8.

Inoue T, Kira R, Nakao F et al. Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis. Arch Neurol 2002; 59:822-7.

Kawashima T, Noguchi E, Arinami T et al. Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families. J Med Genet 1998; 35:502-4.

Khalilzadeh O, Anvari M, Momen-Heravi F et al. Gene polymorphisms of interleukin-4, interleukin-10 and transforming growth factor-beta in Graves’ disease. Clin Exp Med 2010; 10:123-8.

Kim BS, Park SM, Uhm TG et al. Effect of single nucleotide polymorphisms within the interleukin-4 promoter on aspirin intolerance in asthmatics and interleukin-4 promoter activity. Pharmacogenet Genomics 2010; 20:748-58.

Marousi S, Ellul J, Antonacopoulou A, Gogos C, Papathanasopoulos P, Karakantza M. Functional polymorphisms of interleukin 4 and interleukin 10 may predict evolution and functional outcome of an ischaemic stroke. Eur J Neurol 2011; 18:637-43.

Okuma K, Tanaka R, Ogura T et al. Interleukin-4-transgenic hu-PBL-SCID mice: a model for the screening of antiviral drugs and immunotherapeutic agents against X4 HIV-1 viruses. J Infect Dis 2008; 197:134-41.

Pinto LA, Stein RT, Kabesch M. Impact of genetics in childhood asthma. J Pediatr 2008; 84(4 Suppl):68-75.

Qiao HL, Yang J, Zhang YW. Relationships between specific serum IgE, cytokines and polymorphisms in the IL-4, IL-4Ralpha in patients with penicillins allergy. Allergy 2005; 60:1053-9.

Rezaei N, Aghamohammadi A, Mahmoudi M et al. Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency. Immunobiology 2010; 215:81-7.

Scheurer ME, Amirian E, Cao Y et al. Polymorphisms in the interleukin-4 receptor gene are associated with better survival in patients with glioblastoma. Clin Cancer Res 2008; 14:6640-6.

Yu HH, Liu PH, Lin YC et al. Interleukin 4 and STAT6 gene polymorphisms are associated with systemic lupus erythematosus in Chinese patients. Lupus 2010; 19:1219-28.

Zee RY, Cook NR, Cheng S et al. Polymorphism in the P-selectin and interleukin-4 genes as determinants of stroke: a population-based, prospective genetic analysis. Hum Mol Genet 2004; 13:389-96.

IL6 (interleukin 6 (interferon, beta 2))

Amirzargar A, Shahram F, Nikoopour E et al. Proinflammatory cytokine gene polymorphisms in Behçet’s disease. Eur Cytokine Netw 2010; 21:292-6.

Anvari M, Khalilzadeh O, Esteghamati A et al. Graves’ disease and gene polymorphism of TNF-α, IL-2, IL-6, IL-12, and IFN-γ. Endocrine 2010; 37:344-8.

Berthier MT, Paradis AM, Tchernof A et al. The interleukin 6-174G/C polymorphism is associated with indices of obesity in men. J Hum Genet 2003; 48:14-9.

Blagodatskikh KA, Evdokimova MA, Agapkina IuV et al. Gene IL6 G(-174)C and gene IL10 G(-1082)A polymorphisms are associated with unfavourable outcomes in patients with acute coronary syndrome. Mol Biol 2010; 44:839-46.

Chen Y, Pawlikowska L, Yao JS et al. Interleukin-6 involvement in brain arteriovenous malformations. Ann Neurol 2006; 59:72-80.

Chung HW, Seo JS, Hur SE et al. Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women. J Hum Genet 2003; 48:243-8.

Combarros O, van Duijn CM, Hammond N et al. Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer’s disease. J Neuroinflammation 2009; 6:22.

Cussigh A, Falleti E, Fabris C et al. Interleukin 6 promoter polymorphisms influence the outcome of chronic hepatitis C. Immunogenetics 2011; 63:33-41.

Dhiman N, Ovsyannikova IG, Vierkant RA, Pankratz VS, Jacobson RM, Poland GA. Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population. Tissue Antigens 2008; 72:211-20.

Fabris M, Quartuccio L, Lombardi S et al. The CC homozygosis of the -174G>C IL-6 polymorphism predicts a lower efficacy of rituximab therapy in rheumatoid arthritis. Autoimmun Rev 2010. doi:10. 1016/j. autrev. 2010. 06. 012.

Fernández-Real JM, Broch M, Vendrell J, Richart C, Ricart W. Interleukin-6 gene polymorphism and lipid abnormalities in healthy subjects. J Clin Endocrinol Metab 2000; 85:1334-9.

Fishman D, Faulds G, Jeffery R et al. The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 1998; 102:1369-76.

Foster CB, Lehrnbecher T, Samuels S et al. An IL6 promoter polymorphism is associated with a lifetime risk of development of Kaposi sarcoma in men infected with human immunodeficiency virus. Blood 2000; 96:2562-7.

Fragoso JM, Delgadillo H, Juárez-Cedillo T et al. The interleukin 6 -572 G>C (rs1800796) polymorphism is associated with the risk of developing acute coronary syndrome. Genet Test Mol Biomarkers 2010; 14:759-63.

Guerreiro CS, Ferreira P, Tavares L et al. Fatty acids, IL6, and TNFalpha polymorphisms: an example of nutrigenetics in Crohn’s disease. Am J Gastroenterol 2009; 104:2241-9.

He JQ, Foreman MG, Shumansky K et al. Associations of IL6 polymorphisms with lung function decline and COPD. Thorax 2009; 64:698-704.

Hidalgo J, Florit S, Giralt M, Ferrer B, Keller C, Pilegaard H. Transgenic mice with astrocyte-targeted production of interleukin-6 are resistant to high-fat diet-induced increases in body weight and body fat. Brain Behav Immun 2010; 24:119-26.

Illig T, Bongardt F, Schöpfer A et al. Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes. J Clin Endocrinol Metab 2004; 9:5053-8.

Inoue N, Watanabe M, Morita M et al. Association of functional polymorphisms in promoter regions of IL5, IL6 and IL13 genes with development and prognosis of autoimmune thyroid diseases. Clin Exp Immunol 2011; 163:318-23.

Kristiansen OP, Nolsøe RL, Larsen L et al. Association of a functional 17beta-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females. Hum Mol Genet 2003; 12:1101-10.

Lagmay JP, London WB, Gross TG et al. Prognostic significance of interleukin-6 single nucleotide polymorphism genotypes in neuroblastoma: rs1800795 (promoter) and rs8192284 (receptor). Clin Cancer Res 2009; 15:5234-9.

Lee JS, Suh KT, Eun IS. Polymorphism in interleukin-6 gene is associated with bone mineral density in patients with adolescent idiopathic scoliosis. J Bone Joint Surg Br 2010; 92:1118-22.

Mansoori N, Tripathi M, Alam R et al. IL-6-174 G/C and ApoE gene polymorphisms in Alzheimer’s and vascular dementia patients attending the cognitive disorder clinic of the All India Institute of Medical Sciences, New Delhi. Dement Geriatr Cogn Disord 2010; 30:461-8.

Möhlig M, Boeing H, Spranger J et al. Body mass index and C-174G interleukin-6 promoter polymorphism interact in predicting type 2 diabetes. J Clin Endocrinol Metab 2004; 89:1885-90.

Motsinger AA, Donahue BS, Brown NJ, Roden DM, Ritchie MD. Risk factor interactions and genetic effects associated with post-operative atrial fibrillation. Pac Symp Biocomput 2006; 584-95.

Ognjanovic S, Yamamoto J, Saltzman B et al. Serum CRP and IL-6, genetic variants and risk of colorectal adenoma in a multiethnic population. Cancer Causes Control 2010; 21:1131-8.

Ota N, Hunt SC, Nakajima T et al. Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis. Hum Genet 1999; 105:253-7.

Ota N, Nakajima T, Nakazawa I et al. A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density. J Hum Genet 2001; 46:267-72.

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.

Pawlikowska L, Tran MN, Achrol AS et al. Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. Stroke 2004; 35:2294-300.

Qi L, Zhang C, van Dam RM, Hu FB. Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. J Clin Endocrinol Metab 2007; 92:3618-25.

Santhanam U, Ray A, Sehgal PB. Repression of the interleukin 6 gene promoter by p53 and the retinoblastoma susceptibility gene product. Proc Natl Acad Sci USA 1991; 88:7605-9.

Sawczenko A, Azooz O, Paraszczuk J et al. Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children. Proc Natl Acad Sci USA 2005; 102:13260-5.

Sharples EJ, Varagunam M, Sinnott PJ, McCloskey DJ, Raftery MJ, Yaqoob MM. The effect of proinflammatory cytokine gene and angiotensin-converting enzyme polymorphisms on erythropoietin requirements in patients on continuous ambulatory peritoneal dialysis. Perit Dial Int 2006; 26:64-8.

Sobti RC, Berhane N, Mahedi SA et al. Polymorphisms of IL-6 174 G/C, IL-10 -592 C/A and risk of HIV/AIDS among North Indian population. Mol Cell Biochem 2010; 337:145-52.

Thorn CF, Whitehead AS. Differential glucocorticoid enhancement of the cytokine-driven transcriptional activation of the human acute phase serum amyloid A genes, SAA1 and SAA2. J Immunol 2002; 169:399-406.

Villuendas G, San Millán JL, Sancho J, Escobar-Morreale HF. The -597 G→A and -174 G→C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism. J Clin Endocrinol Metab 2002; 87:1134-41.

Wall JS, Richey T, Allen A, Donnell R, Kennel SJ, Solomon A. Quantitative tomography of early-onset spontaneous AA amyloidosis in interleukin 6 transgenic mice. Comp Med 2008; 58:542-50.

Wu D, Zou YF, Xu XY et al. The association of genetic polymorphisms with cerebral palsy: a meta-analysis. Dev Med Child Neurol 2011; 53:217-25

IL6R (interleukin 6 receptor)

Birmann BM, Tamimi RM, Giovannucci E et al. Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma. Cancer Epidemiol Biomarkers Prev 2009; 18:282-8.

Corvol H, de Giacomo A, Eng C et al. Genetic ancestry modifies pharmacogenetic gene-gene interaction for asthma. Pharmacogenet Genomics 2009; 19:489-96.

Gu F, Qureshi AA, Niu T et al. Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma. Melanoma Res 2008; 18:330-5.

Hamid YH, Urhammer SA, Jensen DP et al. Variation in the interleukin-6 receptor gene associates with type 2 diabetes in Danish whites. Diabetes 2004; 53:3342-5.

Jiang CQ, Lam TH, Liu B et al. Interleukin-6 Receptor Gene Polymorphism Modulates Interleukin-6 Levels and the Metabolic Syndrome: GBCS-CVD. Obesity 2010; 18:1969-74.

Marinou I, Walters K, Winfield J, Bax DE, Wilson AG. A gain of function polymorphism in the interleukin 6 receptor influences RA susceptibility. Ann Rheum Dis 2010; 69:1191-4.

Qi L, Rifai N, Hu FB. Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women. Diabetes 2009; 58:275-8.

Rabe B, Chalaris A, May U et al. Transgenic blockade of interleukin 6 transsignaling abrogates inflammation. Blood 2008; 111:1021-8.

Reich D, Patterson N, Ramesh V et al. Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. Am J Hum Genet 2007; 80:716-26.

Wang M, Song H, Jia J. Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer’s disease in Chinese Han. Brain Res 2010; 1327:1-5.

Wu KL, Tu B, Li YQ, Wong CS. Role of intercellular adhesion molecule-1 in radiation-induced brain injury. Int J Radiat Oncol Biol Phys 2010; 76:220-8.

IL8RA (interleukin 8 receptor, alpha)

Castellucci L, Jamieson SE, Miller EN et al. CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study. BMC Med Genet 2010; 11:10.

Lee EB, Kim JY, Zhao J, Park MH, Song YW. Haplotype association of IL-8 gene with Behcet’s disease. Tissue Antigens 2007; 69:128-32.

Li J, Ma Z, Tang ZL, Stevens T, Pitt B, Li S. CpG DNA-mediated immune response in pulmonary endothelial cells. Am J Physiol Lung Cell Mol Physiol 2004; 287:552-8.

Pander J, Gelderblom H, Guchelaar HJ. Pharmacogenetics of EGFR and VEGF inhibition. Drug Discov Today 2007; 12:1054-60.

Vasilescu A, Terashima Y, Enomoto M et al. A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients. Proc Natl Acad Sci USA 2007; 104:3354-9.

IL8RB (interleukin 8 receptor, beta)

Donahue TR, Hines OJ. CXCR2 and RET single nucleotide polymorphisms in pancreatic cancer. World J Surg 2009; 33:710-5.

Li J, Ma Z, Tang ZL, Stevens T, Pitt B, Li S. CpG DNA-mediated immune response in pulmonary endothelial cells. Am J Physiol Lung Cell Mol Physiol 2004; 287:552-8.

Snoussi K, Mahfoudh W, Bouaouina N et al. Combined effects of IL-8 and CXCR2 gene polymorphisms on breast cancer susceptibility and aggressiveness. BMC Cancer 2010; 10:283.

Viana AC, Kim YJ, Curtis KM et al. Association of haplotypes in the CXCR2 gene with periodontitis in a Brazilian population. DNA Cell Biol 2010; 29:191-200.

Wilson C, Purcell C, Seaton A et al. Chemotherapy-induced CXC-chemokine/CXC-chemokine receptor signaling in metastatic prostate cancer cells confers resistance to oxaliplatin through potentiation of nuclear factor-kappaB transcription and evasion of apoptosis. J Pharmacol Exp Ther 2008; 327:746-59.

IL10 (interleukin 10)

Alamartine E, Berthoux P, Mariat C, Cambazard F, Berthoux F. Interleukin-10 promoter polymorphisms and susceptibility to skin squamous cell carcinoma after renal transplantation. J Invest Dermatol 2003; 120:99-103.

Andersen V, Ernst A, Christensen J et al. The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study. BMC Med Genet 2010; 11:82.

Arosio B, Mastronardi L, Vergani C, Annoni G. Intereleukin-10 promoter polymorphism in mild cognitive impairment and in its clinical evolution. Int J Alzheimers Dis 2010. doi:10. 4061/2010/854527

Asadullah K, Eskdale J, Wiese A, Gallagher G, Friedrich M, Sterry W. Interleukin-10 promoter polymorphism in psoriasis. J Invest Dermatol 2001; 116:975-8.

Carregaro F, Carta A, Cordeiro JA, Lobo SM, Silva EH, Leopoldino AM. Polymorphisms IL10-819 and TLR-2 are potentially associated with sepsis in Brazilian patients. Mem Inst Oswaldo Cruz 2010; 105:649-56.

Cooke KR, Ferrara JL. A protective gene for graft-versus-host disease. N Engl J Med 2003; 349:2183-4.

de Paz B, Alperi-López M, Ballina-García FJ et al. Interleukin 10 and tumor necrosis factor-alpha genotypes in rheumatoid arthritis-association with clinical response to glucocorticoids. J Rheumatol 2010; 37:503-11.

Dhiman N, Ovsyannikova IG, Cunningham JM et al. Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes. J Infect Dis 2007; 195:21-9.

Eskdale J, Gallagher G, Verweij CL, Keijsers V, Westendorp RG, Huizinga TW. Interleukin 10 secretion in relation to human IL-10 locus haplotypes. Proc Natl Acad Sci USA 1998; 95:9465-70.

Fowler EV, Eri R, Hume G et al. TNFalpha and IL10 SNPs act together to predict disease behaviour in Crohn’s disease. J Med Genet 2005; 42:523-8.

Franke A, Balschun T, Karlsen TH et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 2008; 40:1319-23

Gibson AW, Edberg JC, Wu J, Westendorp RG, Huizinga TW, Kimberly RP. Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J Immunol 2001; 166:3915-22.

Grant AV, Araujo MI, Ponte EV et al. Polymorphisms in IL10 are associated with total Immunoglobulin E levels and Schistosoma mansoni infection intensity in a Brazilian population. Genes Immun 2011; 12:46-50.

Grove J, Daly AK, Bassendine MF, Gilvarry E, Day CP. Interleukin 10 promoter region polymorphisms and susceptibility to advanced alcoholic liver disease. Gut 2000; 46:540-5.

Jeong ES, Won YS, Kim HC, Cho MH, Choi YK. IL-10 plays an important role in the anti-inflammatory properties against C. kutscheri infection in mice. J Microbiol Biotechnol 2009; 19:424-30.

Kung WJ, Lin CC, Liu SH, Chaung HC. Association of interleukin-10 polymorphisms with cytokines in type 2 diabetic nephropathy. Diabetes Technol Ther 2010; 12:809-13.

Ladhani SN, Davila S, Hibberd ML et al. Association between single-nucleotide polymorphisms in Mal/TIRAP and interleukin-10 genes and susceptibility to invasive haemophilus influenzae serotype b infection in immunized children. Clin Infect Dis 2010; 51:761-7.

Lard LR, van Gaalen FA, Schonkeren JJ et al. Association of the -2849 interleukin-10 promoter polymorphism with autoantibody production and joint destruction in rheumatoid arthritis. Arthritis Rheum 2003; 48:1841-8.

Li D, Zhu JY, Gao J, Wang X, Lou YQ, Zhang GL. Polymorphisms of tumor necrosis factor-alpha, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus. Clin Chim Acta 2007; 383:133-9.

Lin MT, Storer B, Martin PJ et al. Relation of an interleukin-10 promoter polymorphism to graft-versus-host disease and survival after hematopoietic-cell transplantation. N Engl J Med 2003; 349:2201-10.

Lin YJ, Wan L, Huang CM et al. IL-10 and TNF-alpha promoter polymorphisms in susceptibility to systemic lupus erythematosus in Taiwan. Clin Exp Rheumatol 2010; 28:318-24.

Lio D, Candore G, Crivello A et al. Opposite effects of interleukin 10 common gene polymorphisms in cardiovascular diseases and in successful ageing: genetic background of male centenarians is protective against coronary heart disease. J Med Genet 2004; 41:790-4.

Liu J, Song B, Bai X et al. Association of genetic polymorphisms in the interleukin-10 promoter with risk of prostate cancer in Chinese. BMC Cancer 2010; 10:456.

Malhotra D, Darvishi K, Sood S et al. IL-10 promoter single nucleotide polymorphisms are significantly associated with resistance to leprosy. Hum Genet 2005; 118:295-300.

McCarthy BA, Reddi AS, Coakley KM et al. Administration of human umbilical cord blood cells produces Interleukin-10 (IL-10) in IL-10 deficient mice without immunosuppression. Curr Stem Cell Res Ther 2010; 5:13-6.

Möller JC, Paul D, Ganser G et al. IL10 promoter polymorphisms are associated with systemic onset juvenile idiopathic arthritis (SoJIA). Clin Exp Rheumatol 2010; 28:912-8.

Moraes MO, Pacheco AG, Schonkeren JJ et al. Interleukin-10 promoter single-nucleotide polymorphisms as markers for disease susceptibility and disease severity in leprosy. Genes Immun 2004; 5:592-5.

Natividad A, Holland MJ, Rockett KA et al. Susceptibility to sequelae of human ocular chlamydial infection associated with allelic variation in IL10 cis-regulation. Hum Mol Genet 2008; 17:323-9.

Opdal SH, Opstad A, Vege A, Rognum TO. IL-10 gene polymorphisms are associated with infectious cause of sudden infant death. Hum Immunol 2003; 64:1183-9.

Ouma C, Davenport GC, Were T et al. Haplotypes of IL-10 promoter variants are associated with susceptibility to severe malarial anemia and functional changes in IL-10 production. Hum Genet 2008; 124:515-24.

Paul-Samojedny M, Kowalczyk M, Suchanek R et al. Functional polymorphism in the interleukin-6 and interleukin-10 genes in patients with paranoid schizophrenia-a case-control study. J Mol Neurosci 2010; 42:112-9.

Qiao HL, Wen Q, Gao N, Tian X, Jia LJ. Association of IL-10 level and IL-10 promoter SNPs with specific antibodies in penicillin-allergic patients. Eur J Clin Pharmacol 2007; 63:263-9.

Shin HD, Park BL, Kim LH et al. Interleukin 10 haplotype associated with increased risk of hepatocellular carcinoma. Hum Mol Genet 2003; 12:901-6.

Shin HD, Winkler C, Stephens JC et al. Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc Natl Acad Sci USA 2000; 97:14467-72.

Summers AM, Summers CW, Drucker DB, Hajeer AH, Barson A, Hutchinson IV. Association of IL-10 genotype with sudden infant death syndrome. Hum Immunol 2000; 61:1270-3.

Thye T, Browne EN, Chinbuah MA et al. IL10 haplotype associated with tuberculin skin test response but not with pulmonary TB. PLoS One 2009. doi:10. 1371/journal. pone. 0005420.

Wang S, Huang D, Sun S, Ma W, Zhen Q. Interleukin-10 promoter polymorphism predicts initial response of chronic hepatitis B to interferon alfa. Virol J 2011; 8:28.

Weng KP, Hsieh KS, Hwang YT et al. IL-10 polymorphisms are associated with coronary artery lesions in acute stage of Kawasaki disease. Circ J 2010; 74:983-9.

IL12B (interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40))

Altare F, Durandy A, Lammas D et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 1998; 280:1432-5.

Capon F, Di Meglio P, Szaub J et al. Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet 2007; 122:201-6.

Dhiman N, Ovsyannikova IG, Cunningham JM et al. Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes. J Infect Dis 2007; 195:21-9.

Ferguson LR, Han DY, Fraser AG, Huebner C, Lam WJ, Morgan AR. IL23R and IL12B SNPs and Haplotypes Strongly associate with Crohn’s disease risk in a New Zealand population. Gastroenterol Res Pract 2010; 2010:539461.

Emile JF, Lamhamedi S, Le Deist F et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 1998; 80:1432-5.

Hüffmeier U, Lascorz J, Böhm B et al. Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol 2009; 129:355-8.

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.

Litjens NH, van der Plas MJ, Ravensbergen B et al. Psoriasis is not associated with IL-12p70/IL-12p40 production and IL12B promoter polymorphism. J Invest Dermatol 2004; 122:923-6.

Miteva L, Stanilov N, Deliysky T, Mintchev N, Stanilova S. Association of polymorphisms in regulatory regions of interleukin-12p40 gene and cytokine serum level with colorectal cancer. Cancer Invest 2009; 27:924-31.

Morahan G, Kaur G, Singh M et al. Association of variants in the IL12B gene with leprosy and tuberculosis. Tissue Antigens 2007; 69 Suppl 1:234-6.

Morahan G, McKinnon E, Berry J et al. Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium. Genes Immun 2009; 10 Suppl 1:64-8.

Nair RP, Duffin KC, Helms C et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 2009; 41:199-204.

Navaglia F, Basso D, Zambon CF et al. Interleukin 12 gene polymorphisms enhance gastric cancer risk in H pylori infected individuals. J Med Genet 2005; 42:503-10.

Phawong C, Ouma C, Tangteerawatana P et al. Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults. Immunogenetics 2010; 62:345-56.

Picard C, Fieschi C, Altare F et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2002; 70:336-48.

Randolph AG, Lange C, Silverman EK et al. The IL12B gene is associated with asthma. Am J Hum Genet 2004; 75:709-15.

Tsunemi Y, Saeki H, Nakamura K et al. Interleukin-12 p40 gene (IL12B) 3’-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris. J Dermatol Sci 2002; 30:161-6.

Wang J, Tang S, Shen H. Association of genetic polymorphisms in the IL12-IFNG pathway with susceptibility to and prognosis of pulmonary tuberculosis in a Chinese population. Eur J Clin Microbiol Infect Dis 2010; 29:1291-5.

Zambon CF, Fasolo M, Basso D et al. Clarithromycin resistance, tumor necrosis factor alpha gene polymorphism and mucosal inflammation affect H. pylori eradication success. J Gastrointest Surg 2007; 11:1506-14.

Zhang XJ, Huang W, Yang S et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 2009; 41:205-10.

IL17RB (interleukin 17 receptor B)

de Boer OJ, van der Meer JJ, Teeling P et al. Differential expression of interleukin-17 family cytokines in intact and complicated human atherosclerotic plaques. J Pathol 2010; 220:499-508.

Goetz MP, Suman VJ, Ingle JN et al. A two-gene expression ratio of homeobox 13 and interleukin-17B receptor for prediction of recurrence and survival in women receiving adjuvant tamoxifen. Clin Cancer Res 2006; 12:2080-7.

Ma XJ, Wang Z, Ryan PD et al. A two-gene expression ratio predicts clinical outcome in breast cancer patients treated with tamoxifen. Cancer Cell 2004; 5:607-16.

Rickel EA, Siegel LA, Yoon BR et al. Identification of functional roles for both IL-17RB and IL-17RA in mediating IL-25-induced activities. J Immunol 2008; 181:4299-310.

Wang Z, Dahiya S, Provencher H et al. The prognostic biomarkers HOXB13, IL17BR, and CHDH are regulated by estrogen in breast cancer. Clin Cancer Res 2007; 13:6327-34.

IMPDH1 (IMP (inosine monophosphate) dehydrogenase 1)

Vannozzi F, Filipponi F, Di Paolo A et al. An exploratory study on pharmacogenetics of inosine-monophosphate dehydrogenase II in peripheral mononuclear cells from liver-transplant recipients. Transplant Proc 2004; 36:2787-90.

INPP1 (inositol polyphosphate-1-phosphatase)

Løvlie R, Gulbrandsen AK, Molven A, Steen VM. Genomic structure and sequence analysis of a human inositol polyphosphate 1-phosphatase gene (INPP1). Pharmacogenetics 1999; 9:517-28.

Ross ME, Zhou X, Song G et al. Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood 2003; 102:2951-9.

Steen VM, Løvlie R, Osher Y, Belmaker RH, Berle JO, Gulbrandsen AK. The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illness. Pharmacogenetics 1998; 8:259-68.

IRF1 (interferon regulatory factor 1)

Buch T, Uthoff-Hachenberg C, Waisman A. Protection from autoimmune brain inflammation in mice lacking IFN-regulatory factor-1 is associated with Th2-type cytokines. Int Immunol 2003; 15:855-9.

Eason DD, Shepherd AT, Blanck G. Interferon regulatory factor 1 tryptophan 11 to arginine point mutation abolishes DNA binding. Biochim Biophys Acta 1999; 1446:140-4.

Lee YJ, Kang SW, Song JK et al. Associations between interferon regulatory factor-1 polymorphisms and Behçet’s disease. Hum Immunol 2007; 68:770-8.

Nozawa H, Oda E, Ueda S et al. Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer. Int J Cancer 1998; 77:522-7.

Shen Y, Xia M, Zhang J et al. IRF-1 and p65 mediate upregulation of constitutive HLA-A antigen expression by hepatocellular carcinoma cells. Mol Immunol 2009; 46:2045-53.

Testa U, Stellacci E, Pelosi E et al. Impaired myelopoiesis in mice devoid of interferon regulatory factor 1. Leukemia 2004; 18:1864-71.

Wang TN, Chu YT, Chen WY et al. Association of interferon-gamma and interferon regulatory factor 1 polymorphisms with asthma in a family-based association study in Taiwan. Clin Exp Allergy 2006; 36:1147-52.

Yang Y, Lingling S, Ying J et al. Association study between the IL4, IL13, IRF1 and UGRP1 genes in chromosomal 5q31 region and Chinese Graves’ disease. J Hum Genet 2005; 50:574-82.

Zheng L, Yu C, Zhang Z, Yang C, Cai X. Expression of interferon regulatory factor 1, 3, and 7 in primary Sjögren syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009; 107:661-8.

ITGA2 (integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor))

Angiolillo DJ, Fernandez-Ortiz A, Bernardo E et al. 807 C/T Polymorphism of the glycoprotein Ia gene and pharmacogenetic modulation of platelet response to dual antiplatelet treatment. Blood Coagul Fibrinolysis 2004; 15:427-33.

Carlsson LE, Santoso S, Spitzer C, Kessler C, Greinacher A. The alpha2 gene coding sequence T807/A873 of the platelet collagen receptor integrin alpha2beta1 might be a genetic risk factor for the development of stroke in younger patients. Blood 1999; 93:3583-6.

Gerger A, Hofmann G, Langsenlehner U et al. Integrin alpha-2 and beta-3 gene polymorphisms and colorectal cancer risk. Int J Colorectal Dis 2009; 24:159-63.

Kritzik M, Savage B, Nugent DJ, Santoso S, Ruggeri ZM, Kunicki TJ. Nucleotide polymorphisms in the alpha2 gene define multiple alleles that are associated with differences in platelet alpha2 beta1 density. Blood 1998; 92:2382-8.

Kunicki TJ, Kritzik M, Annis DS, Nugent DJ. Hereditary variation in platelet integrin alpha 2 beta 1 density is associated with two silent polymorphisms in the alpha 2 gene coding sequence. Blood 1997; 89:1939-43.

Kunicki TJ, Nugent DJ. The influence of platelet glycoprotein polymorphisms on receptor function and risk for thrombosis. Vox Sang 2002; 83 Suppl 1:85-90.

Matarin M, Brown WM, Hardy JA et al. Association of integrin alpha2 gene variants with ischemic stroke. J Cereb Blood Flow Metab 2008; 28:81-9.

Okumus G, Kiyan E, Arseven O et al. Platelet glycoprotein Ia 807C/T and 873G/A polymorphisms in patients with venous thromboembolism. Clin Appl Thromb Hemost 2007; 13:101-3.

Santoso S, Kunicki TJ, Kroll H, Haberbosch W, Gardemann A. Association of the platelet glycoprotein Ia C807T gene polymorphism with nonfatal myocardial infarction in younger patients. Blood 1999; 93:2449-53.

Wang Y, Fu W, Xie F et al. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. J Hum Genet 2010; 55:490-4.

ITGB3 (integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61))

Chang MH, Yesupriya A, Ned RM, Mueller PW, Dowling NF. Genetic variants associated with fasting blood lipids in the U. S. population: Third National Health and Nutrition Examination Survey. BMC Med Genet 2010; 11:62.

Chiras T, Papadakis ED, Katopodi A et al. Platelet GP IIIA polymorphism HPA-1 (PLA1/2) is associated with hypertension as the primary cause for end-stage renal disease in hemodialysis patients from Greece. In Vivo 2009; 23:177-81.

Jakubowska A, Gronwald J, Menkiszak et al. Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. J Med Genet 2007; 44:408-11.

Jin Y, Dietz HC, Montgomery RA et al. Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J Clin Invest 1996; 98:1745-54.

Kekomaki R, Dawson B, McFarland J, Kunicki TJ. Localization of human platelet autoantigens to the cysteine-rich region of glycoprotein IIIa. J Clin Invest 1991; 88:847-54.

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.

Newman PJ, Derbes RS, Aster RH. The human platelet alloantigens, PlA1 and PlA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing. J Clin Invest 1989; 83:1778-81.

Newman PJ, Seligsohn U, Lyman S, Coller BS. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci USA 1991; 88:3160-4.

O’Connor FF, Shields DC, Fitzgerald A et al. Genetic variation in glycoprotein IIb/IIIa (GPIIb/IIIa) as a determinant of the responses to an oral GPIIb/IIIa antagonist in patients with unstable coronary syndromes. Blood 2001; 98:3256-60.

Peretz H, Rosenberg N, Landau M et al. Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). Hum Mutat 2006; 27:359-69.

Rinder CS, Mathew JP, Rinder HM et al. Platelet PlA2 polymorphism and platelet activation are associated with increased troponin I release after cardiopulmonary bypass. Anesthesiology 2002; 97:1118-22.

Walter DH, Schächinger V, Elsner M, Dimmeler S, Zeiher AM. Platelet glycoprotein IIIa polymorphisms and risk of coronary stent thrombosis. Lancet 1997; 350:1217-9.

Weiss LA, Kosova G, Delahanty RJ et al. Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility. Eur J Hum Genet 2006; 14:923-31.

Weiss LA, Ober C, Cook EH Jr. ITGB3 shows genetic and expression interaction with SLC6A4. Hum Genet 2006; 120:93-100.

Weiss LA, Veenstra-Vanderweele J, Newman DL et al. Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin. Eur J Hum Genet 2004; 12:949-54.

ITPA (inosine triphosphatase (nucleoside triphosphate pyrophosphatase))

Ansari A, Arenas M, Greenfield S et al. Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease. Aliment Pharmacol Ther 2008; 28:973-83.

Bierau J, Lindhout M, Bakker JA. Pharmacogenetic significance of inosine triphosphatase. Pharmacogenomics 2007; 8:1221-8.

Marinaki AM, Ansari A, Duley JA et al. Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). Pharmacogenetics 2004; 14:181-7.

Okada Y, Nakamura K, Hiromura K, Nojima Y, Horiuchi R, Yamamoto K. Pro32Thr polymorphism of inosine triphosphate pyrophosphatase gene predicts efficacy of low-dose azathioprine for patients with systemic lupus erythematosus. Clin Pharmacol Ther 2009; 85:527-30.

Stocco G, Cheok MH, Crews KR et al. Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. Clin Pharmacol Ther 2009; 85:164-72.

Thompson AJ, Santoro R, Piazzolla V et al. Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR. Hepatology 2011; 53:389-95.