Genetics in coeliac disease

Best Pract Res Clin Gastroenterol. 2005 Jun;19(3):323-39. doi: 10.1016/j.bpg.2005.01.001.


Coeliac disease has a strong genetic component, higher than for many other common complex diseases. Possession of the HLA-DQ2 variant is required for presentation of disease causing dietary antigens to T cells, although this is also common in the healthy population. Non-HLA genetic factors account for the majority of heritable risk. Linkage studies have identified promising regions on chromosomes 5 and 19, with multiple other loci awaiting definitive confirmation in independent studies. Inherited variants in the tightly clustered chromosome 2q CD28-CTLA4-ICOS region are associated with disease, although of weak effect size. Larger sample sizes are necessary in coeliac disease genetic studies to detect small effects, alternatively meta-analysis offers promise. Newer methods including gene expression analysis and genome wide association studies will advance understanding of genetic susceptibility. Identification of coeliac disease genes may improve diagnostic/prognostic markers, basic understanding of disease aetiology, permit development of novel therapeutics and provide insight into other autoimmune disorders.

Publication types

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

MeSH terms

  • Celiac Disease / genetics*
  • Clinical Trials as Topic
  • Genetic Predisposition to Disease
  • Humans