Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet`s disease susceptibility loci

Behçets disease is a chronic systemic inflammatory disorder characterized by four major manifestations: recurrent ocular symptoms, oral and genital ulcers and skin lesions1. We conducted a genome-wide association study in a Japanese cohort including 612 individuals with Behçets disease and 740 unaffected individuals (controls). We identified two suggestive associations on chromosomes 1p31.3 (IL23R-IL12RB2, rs12119179, P = 2.7 × 10−8) and 1q32.1 (IL10, rs1554286, P = 8.0 × 10−8). A meta-analysis of these two loci with results from additional Turkish and Korean cohorts showed genomewide significant associations (rs1495965 in IL23R-IL12RB2, P = 1.9 × 10−11, odds ratio = 1.35; rs1800871 in IL10, P = 1.0 × 10−14, odds ratio = 1.45).Remmers EF, 2010, NAT GENET, V42, P698, DOI 10.1038/ng.625Meguro A, 2010, ANN RHEUM DIS, V69, P747, DOI 10.1136/ard.2009.108571Hirschfield GM, 2009, NEW ENGL J MED, V360, P2544, DOI 10.1056/NEJMoa0810440Fei YP, 2009, ARTHRITIS RES THER, V11, DOI 10.1186/ar2695Isomura M, 2008, CLIN CANCER RES, V14, P6683, DOI 10.1158/1078-0432.CCR-07-4389Rueda B, 2008, ANN RHEUM DIS, V67, P1451, DOI 10.1136/ard.2007.080283Liu Y, 2008, PLOS GENET, V4, DOI 10.1371/journal.pgen.1000041Purcell S, 2007, AM J HUM GENET, V81, P559, DOI 10.1086/519795Cargill M, 2007, AM J HUM GENET, V80, P273Wallace GR, 2007, HUM IMMUNOL, V68, P122, DOI 10.1016/j.humimm.2006.11.010Duerr RH, 2006, SCIENCE, V314, P1461, DOI 10.1126/science.1135245Price AL, 2006, NAT GENET, V38, P904, DOI 10.1038/ng1847Iwakura Y, 2006, J CLIN INVEST, V116, P1218, DOI 10.1172/JCI28508Barrett JC, 2005, BIOINFORMATICS, V21, P263, DOI 10.1093/bioinformatics/bth457Chang JT, 1999, J EXP MED, V189, P969Kaklamani VG, 1998, SEMIN ARTHRITIS RHEU, V27, P197Turner DM, 1997, EUR J IMMUNOGENET, V24, P11990, LANCET, V335, P1078MIZUSHIMA Y, 1988, INT J TISSUE REACT, V10, P59OHNO S, 1982, ARCH OPHTHALMOL-CHIC, V100, P14553