TY - JOUR
T1 - Genetics and epigenetics of autoimmune thyroid diseases
T2 - Translational implications
AU - Lee, Hanna J.
AU - Stefan–Lifshitz, Mihaela
AU - Li, Cheuk Wun
AU - Tomer, Yaron
N1 - Publisher Copyright:
© 2022 Elsevier Ltd
PY - 2023/3
Y1 - 2023/3
N2 - 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.
AB - 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.
KW - CD40
KW - HLA
KW - TSHR
KW - autoimmune thyroid disease
KW - genes
KW - thyroglobulin
UR - http://www.scopus.com/inward/record.url?scp=85128677464&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85128677464&partnerID=8YFLogxK
U2 - 10.1016/j.beem.2022.101661
DO - 10.1016/j.beem.2022.101661
M3 - Review article
C2 - 35459628
AN - SCOPUS:85128677464
SN - 1521-690X
VL - 37
JO - Best Practice and Research: Clinical Endocrinology and Metabolism
JF - Best Practice and Research: Clinical Endocrinology and Metabolism
IS - 2
M1 - 101661
ER -
