HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis

Gastroenterology. 1993 Sep;105(3):910-22. doi: 10.1016/0016-5085(93)90912-v.


The overrepresentation of particular HLA alleles in patients with celiac disease was first noted two decades ago. Several lines of evidence obtained during the last years strongly suggest that a particular HLA-DQ heterodimer, encoded by the DQA1*0501 and DQB1*0201 genes in cis or trans configuration, confers the primary disease susceptibility. This paper reviews the evidence behind this concept and discusses how this particular DQ molecule may be involved in the pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Celiac Disease / etiology*
  • Celiac Disease / genetics*
  • Chromosome Mapping*
  • Genes, MHC Class I / genetics*
  • Genes, MHC Class II / genetics*
  • Genetic Predisposition to Disease
  • Humans