1. Genetics of Thyroid Autoimmunity.
- Author
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Tomer, Yaron
- Abstract
Autoimmune thyroid diseases (AITD) including Graves΄ disease (GD) and Hashimoto΄s thyroiditis (HT) are the commonest autoimmune endocrine diseases, affecting up to 5% of the general population. Genetic factors play a major role in the etiology of AITD as evidenced by the strong familial aggregation of the AITD and the high concordance rates in monozygotic twins. The past decade has witnessed significant progress in our understanding of the genetic contribution to the etiology of AITD, and several major AITD susceptibility genes have been identified and characterized. Some susceptibility genes are specific to either Graves΄ disease or Hashimoto΄s thyroiditis, while others are common to both conditions. The first AITD susceptibility gene locus identified was the HLA-DR gene locus. Subsequently, five major non-HLA genes, including the CTLA-4, CD40, PTPN22, thyroglobulin, and TSH receptor (TSHR) gene, have been shown to contribute to the susceptibility to AITD; other putative genes are still being tested and confirmed. Excitingly, we are now beginning to unravel the mechanisms by which these AITD susceptibility genes confer risk for disease. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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