Mechanisms of autoimmune thyroid diseases: From genetics to epigenetics

Research output: Contribution to journalArticle

117 Scopus citations


Recent advances in our understanding of genetic-epigenetic interactions have unraveled new mechanisms underlying the etiology of complex autoimmune diseases. Autoimmune thyroid diseases (AITDs) are highly prevalent, affecting 1% to 5% of the population. The major AITDs include Graves disease (GD) and Hashimoto's thyroiditis (HT); although these diseases contrast clinically, their pathogenesis involves shared immunogenetic mechanisms. Genetic data point to the involvement of both shared and unique genes. Among the shared susceptibility genes, HLA-DRβ1-Arg74 (human leukocyte antigen DR containing an arginine at position β74) confers the strongest risk. Recent genome-wide analyses have revealed new putative candidate genes. Epigenetic modulation is emerging as a major mechanism by which environmental factors interact with AITD susceptibility genes. Dissecting the genetic-epigenetic interactions underlying the pathogenesis of AITD is essential to uncover new therapeutic targets.

Original languageEnglish (US)
Pages (from-to)147-156
Number of pages10
JournalAnnual Review of Pathology: Mechanisms of Disease
StatePublished - Jan 1 2014


  • Autoimmunity
  • Graves disease
  • Hashimoto's thyroiditis
  • Thyroid

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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