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Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

2010; Nature Portfolio; Volume: 42; Issue: 8 Linguagem: Inglês

10.1038/ng.625

1546-1718

Elaine F. Remmers, Fulya Coşan, Yohei Kirino, Michael J. Ombrello, Neslihan Abacı, Colleen Satorius, Julie Le, Barbara Yang, Benjamin D. Korman, Aris Çakiris, Oznur Aglar, Zeliha Emrence, Hülya Azaklı, Duran Üstek, İlknur Tuğal-Tutkun, Gülşen Akman‐Demir, Wei Chen, Christopher I. Amos, Michael B. Dizon, Afet Akdağ Köse, Gülsevim Azizlerli, Burak Erer, Stephan Brand, Virginia Kaklamani, Phaedon Kaklamanis, Eldad Ben‐Chetrit, Miles Stanford, Farida Fortune, Marwen Ghabra, William Ollier, Young-Hun Cho, Dongsik Bang, John J. O’Shea, Graham R. Wallace, Massimo Gadina, Daniel L. Kastner, Ahmet Gül,

Systemic Lupus Erythematosus Research

Elaine Remmers and colleagues report a genome-wide association study for Behçet's Disease in a Turkish population. They identify associations in the Class I region of the MHC, IL10 and IL23R-IL12RB2. 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 × 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 × 10−18, odds ratio = 1.45, 95% CI 1.34–1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 × 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.