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

N Mizuki, A Meguro, M Ota, S Ohno, T Shiota… - Nature …, 2010 - nature.com
N Mizuki, A Meguro, M Ota, S Ohno, T Shiota, T Kawagoe, N Ito, J Kera, E Okada, K Yatsu…
Nature genetics, 2010nature.com
Behçet's disease is a chronic systemic inflammatory disorder characterized by four major
manifestations: recurrent ocular symptoms, oral and genital ulcers and skin lesions. We
conducted a genome-wide association study in a Japanese cohort including 612 individuals
with Behçet's 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 …
Abstract
Behçet's disease is a chronic systemic inflammatory disorder characterized by four major manifestations: recurrent ocular symptoms, oral and genital ulcers and skin lesions. We conducted a genome-wide association study in a Japanese cohort including 612 individuals with Behçet's 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 genome-wide 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).
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