Mechanisms of autoimmune thyroid diseases: from genetics to epigenetics

• Tomer Yaron
• J.J. Peters

Abstract

Recent advances in our understanding of geneticepigenetic 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 genomewide 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 ofAITDis essential to uncover new therapeutic targets.

Annu. Rev. Pathol. Mech. Dis. – 2014. – Vol. 9. – Р. 147–56. doi: 10.1146/annurevpathol012513–104713

Keywords:autoimmunity, thyroid, Graves disease, Hashimoto’s thyroiditis