EF Remmers, F Cosan, Y Kirino, MJ Ombrello, N Abaci, C Satorius, JM Le, B Yang, BD Korman, A Cakiris, O Aglar, Z Emrence, H Azakli, D Ustek, I Tugal-Tutkun, G Akman-Demir, W Chen, CI Amos, MB Dizon, AA Kose, G Azizlerli, B Erer, OJ Brand, VG Kaklamani, P Kaklamanis, E Ben-Chetrit, M Stanford, F Fortune, M Ghabra, WE Ollier, YH Cho, D Bang, J O'Shea, GR Wallace, M Gadina, DL Kastner, A Gül
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
Behçet's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and skin. We performed a genome-wide association study with 311,459 SNPs in 1,215 individuals with Behçet's disease (cases) and 1,278 healthy controls from Turkey. We confirmed the known association of Behçet's disease with HLA-B*51 and identified a second, independent association within the MHC Class I region. We also identified an association at IL10 (rs1518111, P = 1.88 x 10(-8)). Using a meta-analysis with an additional five cohorts from Turkey, the Middle East, Europe and Asia, comprising a total of 2,430 cases and 2,660 controls, we identified associations at IL10 (rs1518111, P = 3.54 x 10(-18), odds ratio = 1.45, 95% CI 1.34-1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 x 10(-9), OR = 1.28, 95% CI 1.18-1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production.
PUBMED: 20622878
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