Abstract

Genetic mapping has identified several candidate variants in autoimmune conditions; however, thyroid autoimmune diseases cannot be explained by genetic susceptibility alone. In monozygotic twins, the concordance for most autoimmune diseases is only 20%–30%, indicating that epigenetics and environmental factors may also be determinant. Epigenetics refers to inheritable and potentially reversible changes in DNA and chromatin, which regulate gene expression without altering the DNA sequence. Epigenetic regulation includes DNA methylation, histone modification, and noncoding RNA-mediated regulation. Epigenetic mechanisms regulate gene expression levels, and their impairments result in networks of genes that are switched on or off, thus contributing to disease pathogenesis. This chapter describes the contribution of epigenetics to autoimmune thyroid disorders.

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