Hashimoto's thyroiditis (HT) and Graves' disease (GD) are prevalent autoimmune disorders, representing opposite ends of the clinical spectrum of autoimmune thyroid diseases (AITD). The pathogenesis involves a complex interplay between environment and genes. Specific susceptibility genes have been discovered that predispose to AITD, including thyroid-specific and immune-regulatory genes. Growing evidence has revealed that genetic and epigenetic variants can alter autoantigen presentation during the development of immune tolerance, can enhance self-peptide binding to MHC (major histocompatibility complex), and can amplify stimulation of T- and B-cells. These gene-driven mechanistic discoveries lay the groundwork for novel treatment targets. This review summarizes recent advances in our understanding of key AITD susceptibility genes (Tg1, TSHR, HLA-DR3, and CD40) and their translational therapeutic potential.
|Original language||English (US)|
|Journal||Best Practice and Research: Clinical Endocrinology and Metabolism|
|State||Accepted/In press - 2022|
- autoimmune thyroid disease
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism