Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

Nat Genet. 2015 Jun;47(6):577-8. doi: 10.1038/ng.3268. Epub 2015 Apr 20.


Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. We fine mapped the MHC association signal to identify additional risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles and observed five new associations that account for 18% of the genetic risk. Taking these new loci together with the 57 known non-MHC loci, genetic variation can now explain up to 48% of celiac disease heritability.

Publication types

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

MeSH terms

  • Case-Control Studies
  • Celiac Disease / genetics*
  • Chromosome Mapping
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • HLA-DQ alpha-Chains / genetics*
  • HLA-DQ beta-Chains / genetics*
  • Haplotypes
  • Humans
  • Risk
  • Risk Factors


  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • HLA-DQA1 antigen
  • HLA-DQB1 antigen