Celiac disease and endocrine autoimmunity - the genetic link

Autoimmun Rev. 2018 Dec;17(12):1169-1175. doi: 10.1016/j.autrev.2018.05.013. Epub 2018 Oct 12.


Celiac disease is a small intestinal inflammatory disease with autoimmune features that is triggered and maintained by the ingestion of the storage proteins (gluten) of wheat, barley and rye. The prevalence of celiac disease is increased in patients with monoglandular and/or polyglandular autoimmunity and their relatives. Between 10 and 30% of patients with celiac disease are thyroid and/or type 1 diabetes antibody positive, while around 5 to 7% of patients with autoimmune thyroid disease and/or type 1 diabetes are IgA anti-tissue transglutaminase antibody positive. The close relationship between celiac disease and endocrine autoimmunity is largely explained by sharing a common genetic background. The HLA antigens DQ2 (DQA1*0501-DQB1*0201) and/or DQ8 (DQA1*0301-DQB1*0302), that are tightly linked to DR3 and DR4, respectively, are the major common genetic predisposition. Moreover, functional single nucleotide polymorphisms of various genes that are involved in immune regulation have been identified as "overlap" susceptibility genes for both celiac disease and monoglandular or polyglandular autoimmunity. While plausible, it remains to be established how far a gluten free diet may prevent or ameliorate glandular autoimmunity. In conclusion, all patients with celiac disease should be screened for type 1 diabetes and/or autoimmune thyroid disease. Conversely, patients with the above autoimmune endocrine disorders should be also screened for celiac disease.

Keywords: Celiac disease; HLA antigens; endocrine autoimmunity; genetic link; single nucleotide polymorphisms.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Autoimmunity / genetics*
  • Autoimmunity / immunology
  • Celiac Disease / genetics*
  • Celiac Disease / immunology
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Genetic Predisposition to Disease*
  • HLA Antigens / genetics*
  • HLA Antigens / immunology*
  • Humans
  • Polymorphism, Single Nucleotide


  • HLA Antigens