{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lee HJ"],"funding":["National Institute of Diabetes and Digestive and Kidney Diseases","NIDDK NIH HHS","Pfizer","American Thyroid Association","Juvenile Diabetes Research Foundation International"],"pagination":["101661"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9550878"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["37(2)"],"pubmed_abstract":["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 under"],"journal":["Best practice & research. Clinical endocrinology & metabolism"],"pubmed_title":["Genetics and epigenetics of autoimmune thyroid diseases: Translational implications."],"pmcid":["PMC9550878"],"funding_grant_id":["DK073681","DK067555","R01 DK073681","R01 DK067555"],"pubmed_authors":["Li CW","Lee HJ","Tomer Y","Stefan-Lifshitz M"],"additional_accession":[]},"is_claimable":false,"name":"Genetics and epigenetics of autoimmune thyroid diseases: Translational implications.","description":"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 under","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Mar","modification":"2025-04-04T08:34:42.353Z","creation":"2025-04-04T08:34:42.353Z"},"accession":"S-EPMC9550878","cross_references":{"pubmed":["35459628"],"doi":["10.1016/j.beem.2022.101661"]}}