Genetic dissection between silent and clinically diagnosed symptomatic forms of coeliac disease in multiplex families

Dig Liver Dis. 2002 Dec;34(12):842-5. doi: 10.1016/s1590-8658(02)80253-5.


Background: Coeliac disease has a large variation in clinical outcome. In addition to the classical disease with malabsorption, many individuals have a silent form, in which subject symptoms are missing but autoantibodies and mucosa lesions are identical to the symptomatic disease.

Aim: To investigate whether differences in HLA DR-DQ genes explain the variation in outcome.

Materials and methods: HLA DQ alleles were determined in 28 multiplex families with sibling pairs in which one had the symptomatic disease but the other had the silent form.

Results: No differences in the distribution of HLA DR-DQ haplotypes could be observed. The clinically diagnosed coeliac disease seemed to have earlier onset than silent coeliac disease.

Conclusions: Results indicate that the major genetic susceptibility locus, HLA DQ, does not determine the exact clinical outcome of coeliac disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Celiac Disease / genetics*
  • Celiac Disease / pathology
  • Celiac Disease / physiopathology
  • Female
  • HLA-DQ Antigens / analysis*
  • Humans
  • Male


  • HLA-DQ Antigens