Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease
Open Access
- 11 July 2010
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 42 (8), 698-702
- https://doi.org/10.1038/ng.625
Abstract
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.Keywords
This publication has 25 references indexed in Scilit:
- Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 ReceptorNew England Journal of Medicine, 2009
- A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosusNature Genetics, 2009
- Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetesNature Genetics, 2009
- Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association studyArthritis Research & Therapy, 2009
- Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variantsNature Genetics, 2007
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage AnalysesAmerican Journal of Human Genetics, 2007
- IL-10 Genotype Analysis in Patients with Behçet’s DiseaseHuman Immunology, 2007
- A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk GenesAmerican Journal of Human Genetics, 2007
- Polymorphic haplotypes of the interleukin-10 5? flanking region determine variable interleukin-10 transcription and are associated with particular phenotypes of juvenile rheumatoid arthritisArthritis & Rheumatism, 1999
- AN INVESTIGATION OF POLYMORPHISM IN THE INTERLEUKIN‐10 GENE PROMOTEREuropean Journal of Immunogenetics, 1997