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- Title
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
- Authors
Remmers, Elaine F.; Cosan, Fulya; Kirino, Yohei; Ombrello, Michael J.; Abaci, Neslihan; Satorius, Colleen; Le, Julie M.; Yang, Barbara; Korman, Benjamin D.; Cakiris, Aris; Aglar, Oznur; Emrence, Zeliha; Azakli, Hulya; Ustek, Duran; Tugal-Tutkun, Ilknur; Akman-Demir, Gulsen; Wei Chen; Amos, Christopher I.; Dizon, Michael B.; Kose, Afet Akdag
- Abstract
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.
- Subjects
TURKEY; BEHCET'S disease; INFLAMMATION; GENOMICS; GENE frequency; GENE expression; MAJOR histocompatibility complex; COHORT analysis
- Publication
Nature Genetics, 2010, Vol 42, Issue 8, p698
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.625