Clinical implications of shared genetics and pathogenesis in autoimmune diseases

Nat Rev Endocrinol. 2013 Nov;9(11):646-59. doi: 10.1038/nrendo.2013.161. Epub 2013 Aug 20.


Many endocrine diseases, including type 1 diabetes mellitus, Graves disease, Addison disease and Hashimoto disease, originate as an autoimmune reaction that affects disease-specific target organs. These autoimmune diseases are characterized by the development of specific autoantibodies and by the presence of autoreactive T cells. They are caused by a complex genetic predisposition that is attributable to multiple genetic variants, each with a moderate-to-low effect size. Most of the genetic variants associated with a particular autoimmune endocrine disease are shared between other systemic and organ-specific autoimmune and inflammatory diseases, such as rheumatoid arthritis, coeliac disease, systemic lupus erythematosus and psoriasis. Here, we review the shared and specific genetic background of autoimmune diseases, summarize their treatment options and discuss how identifying the genetic and environmental factors that predispose patients to an autoimmune disease can help in the diagnosis and monitoring of patients, as well as the design of new treatments.

Publication types

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

MeSH terms

  • Arthritis, Rheumatoid / diagnosis
  • Arthritis, Rheumatoid / epidemiology
  • Arthritis, Rheumatoid / genetics
  • Arthritis, Rheumatoid / immunology
  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / epidemiology
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Lupus Erythematosus, Systemic / diagnosis
  • Lupus Erythematosus, Systemic / epidemiology
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology