Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease
Copyright policy )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.
- Korean Association Of Science and Technology Studies Korea (Republic of)
- Queen Mary University of London United Kingdom
- Istanbul University Turkey
- National Institute of Health Pakistan
- National Institutes of Health United States
Asia, Turkey, PROMOTER, LOCI, 610, Genes, MHC Class I, SUSCEPTIBILITY, Polymorphism, Single Nucleotide, Article, Middle East, Humans, TRANSCRIPTION, Alleles, RISK, Behcet Syndrome, 500, GENE, POLYMORPHISM, Interleukin-10, Europe, HLA-B Antigens, Case-Control Studies, INTERLEUKIN-10 RECEPTOR, INFLAMMATORY-BOWEL-DISEASE, COLITIS, Genome-Wide Association Study
Asia, Turkey, PROMOTER, LOCI, 610, Genes, MHC Class I, SUSCEPTIBILITY, Polymorphism, Single Nucleotide, Article, Middle East, Humans, TRANSCRIPTION, Alleles, RISK, Behcet Syndrome, 500, GENE, POLYMORPHISM, Interleukin-10, Europe, HLA-B Antigens, Case-Control Studies, INTERLEUKIN-10 RECEPTOR, INFLAMMATORY-BOWEL-DISEASE, COLITIS, Genome-Wide Association Study
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