[Genetics of thyroid autoimmunity - update and clinical relevance]

Med Klin (Munich). 2009 Mar 15;104(3):210-9. doi: 10.1007/s00063-009-1034-6. Epub 2009 Apr 1.
[Article in German]

Abstract

The autoimmune thyroid diseases with the main phenotypes Graves' disease and Hashimoto's thyroiditis belong to the most frequently occurring autoimmune diseases. Genetic factors play a major role in their etiology, and in the past a couple of susceptibility genes have been identified. These are immunoregulatory genes like the HLA class II genes, the CTLA-4 gene and the PTPN22 gene and thyroid-specific genes for the TSH receptor and thyroglobulin. Even though this knowledge contributed to a better understanding of the pathogenesis of the autoimmune thyroid diseases, up to now the clinical relevance has been discussed insufficiently. Hence, this review provides an update of all relevant susceptibility genes for thyroid autoimmunity and discusses their significance for the clinical work.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Antigens, CD / genetics
  • Autoantibodies / blood
  • CTLA-4 Antigen
  • Genes, MHC Class II / genetics
  • Genetic Predisposition to Disease / genetics
  • Graves Disease / diagnosis
  • Graves Disease / genetics*
  • Graves Disease / immunology
  • Hashimoto Disease / diagnosis
  • Hashimoto Disease / genetics*
  • Hashimoto Disease / immunology
  • Humans
  • Polyendocrinopathies, Autoimmune / diagnosis
  • Polyendocrinopathies, Autoimmune / genetics
  • Polyendocrinopathies, Autoimmune / immunology
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
  • Receptors, Thyrotropin / genetics
  • Thyroglobulin / genetics

Substances

  • Antigens, CD
  • Autoantibodies
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Receptors, Thyrotropin
  • Thyroglobulin
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22