Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

Nat Genet. 2015 Sep;47(9):1085-90. doi: 10.1038/ng.3379. Epub 2015 Aug 10.

Abstract

Human leukocyte antigen (HLA) genes confer substantial risk for autoimmune diseases on a log-additive scale. Here we speculated that differences in autoantigen-binding repertoires between a heterozygote's two expressed HLA variants might result in additional non-additive risk effects. We tested the non-additive disease contributions of classical HLA alleles in patients and matched controls for five common autoimmune diseases: rheumatoid arthritis (ncases = 5,337), type 1 diabetes (T1D; ncases = 5,567), psoriasis vulgaris (ncases = 3,089), idiopathic achalasia (ncases = 727) and celiac disease (ncases = 11,115). In four of the five diseases, we observed highly significant, non-additive dominance effects (rheumatoid arthritis, P = 2.5 × 10(-12); T1D, P = 2.4 × 10(-10); psoriasis, P = 5.9 × 10(-6); celiac disease, P = 1.2 × 10(-87)). In three of these diseases, the non-additive dominance effects were explained by interactions between specific classical HLA alleles (rheumatoid arthritis, P = 1.8 × 10(-3); T1D, P = 8.6 × 10(-27); celiac disease, P = 6.0 × 10(-100)). These interactions generally increased disease risk and explained moderate but significant fractions of phenotypic variance (rheumatoid arthritis, 1.4%; T1D, 4.0%; celiac disease, 4.1%) beyond a simple additive model.

Publication types

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

MeSH terms

  • Autoimmune Diseases / genetics*
  • Case-Control Studies
  • Epistasis, Genetic
  • Genetic Association Studies
  • Genetic Loci
  • Genetic Predisposition to Disease
  • HLA-C Antigens / genetics*
  • HLA-D Antigens / genetics*
  • Haplotypes
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • HLA-C Antigens
  • HLA-C*06:02 antigen
  • HLA-D Antigens
  • Histocompatibility Antigens Class I