Biomaterial Database

Genetics and epigenetics of autoimmune thyroid diseases: Translational implications. 2023

Hanna J Lee, and Mihaela Stefan-Lifshitz, and Cheuk Wun Li, and Yaron Tomer

Department of Medicine, The Fleischer Institute for Diabetes and Metabolism, Albert Einstein College of Medicine, New York, NY, USA. Electronic address: hlee8@montefiore.org.

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.

UI	MeSH Term	Description	Entries
D006111	Graves Disease	A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy).	Basedow's Disease,Exophthalmic Goiter,Goiter, Exophthalmic,Graves' Disease,Basedow Disease,Hyperthyroidism, Autoimmune,Basedows Disease,Disease, Basedow,Disease, Basedow's,Disease, Graves,Disease, Graves',Exophthalmic Goiters,Goiters, Exophthalmic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001327	Autoimmune Diseases	Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.	Autoimmune Disease,Disease, Autoimmune,Diseases, Autoimmune
D013959	Thyroid Diseases	Pathological processes involving the THYROID GLAND.	Disease, Thyroid,Diseases, Thyroid,Thyroid Disease
D044127	Epigenesis, Genetic	A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.	Epigenetic Processes,Epigenetic Process,Epigenetics Processes,Genetic Epigenesis,Process, Epigenetic,Processes, Epigenetic,Processes, Epigenetics
D050031	Hashimoto Disease	Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM.	Hashimoto's Disease,Chronic Lymphocytic Thyroiditis,Hashimoto Struma,Hashimoto Thyroiditis,Hashimoto's Struma,Hashimoto's Syndrome,Chronic Lymphocytic Thyroiditides,Disease, Hashimoto,Disease, Hashimoto's,Hashimoto Syndrome,Hashimoto Thyroiditides,Hashimoto's Syndromes,Hashimotos Disease,Hashimotos Syndrome,Lymphocytic Thyroiditides, Chronic,Lymphocytic Thyroiditis, Chronic,Syndrome, Hashimoto's,Syndromes, Hashimoto's,Thyroiditides, Chronic Lymphocytic,Thyroiditides, Hashimoto,Thyroiditis, Chronic Lymphocytic,Thyroiditis, Hashimoto
D020022	Genetic Predisposition to Disease	A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.	Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic