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Clinical implications of shared genetics and pathogenesis in autoimmune diseases

Journal

NATURE REVIEWS ENDOCRINOLOGY
Volume 9, Issue 11, Pages 646-659

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/nrendo.2013.161

Keywords

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Funding

  1. Top Institute Food and Nutrition, the Netherlands [GH001]
  2. European Research Council under the European Union's Seventh Framework Programme [2012-322698]
  3. Dutch Digestive Diseases Foundation (MLDS) [WO11-30]
  4. Dutch MS Foundation [11-752]
  5. University of Groningen
  6. Dutch Reumafonds [11-1-101]

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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.

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