Graves' Disease: Introducing New Genetic and Epigenetic Contributors

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Journal of molecular endocrinology


Autoimmune thyroid disease (AITD) accounts for 90% of all thyroid diseases and affects 2-5% of the population with remarkable familial clustering. Among AITDs, Graves' disease (GD) is a complex disease affecting thyroid function. Over the last two decades, case-control studies using cutting-edge gene sequencing techniques have detected various susceptible loci that may predispose individuals to GD. It has been presumed that all likely associated genes, variants, and polymorphisms might be responsible for 75-80% of the heritability of GD. As a result, there are implications concerning the potential contribution of environmental and epigenetic factors in the pathogenesis of GD, including its initiation, progression, and development. Numerous review studies have summarized the contribution of genetic factors in GD until now, but there are still some key questions and notions that have not been discussed concerning the interplay of genetic, epigenetic, and immunological factors. With this in mind, this review discusses some newly-identified loci and their potential roles in the pathogenicity of GD. This may lead to the identification of new, promising therapeutic targets. Here, we emphasized principles, listed all the reported disease-associated genes and polymorphisms, and also summarized the current understanding of the epigenetic basis of GD.

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BioScientifica; Society for Endocrinology; European Society of Endocrinology