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

Nat Genet. 2010 Aug;42(8):698-702. doi: 10.1038/ng.625. Epub 2010 Jul 11.

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 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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asia
  • Behcet Syndrome / genetics*
  • Behcet Syndrome / immunology
  • Case-Control Studies
  • Europe
  • Genes, MHC Class I / genetics*
  • Genome-Wide Association Study*
  • HLA-B Antigens / genetics
  • HLA-B Antigens / immunology
  • Humans
  • Interleukin-10 / genetics*
  • Interleukin-10 / immunology
  • Middle East
  • Polymorphism, Single Nucleotide
  • Turkey

Substances

  • HLA-B Antigens
  • Interleukin-10