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Graves' disease

From SNPedia

Wikipedia (as edited July 22, 2017) re Graves' disease: it is a form of autoimmune thyroid disease (AITD) in which the body produces antibodies to the receptor for thyroid-stimulating hormone. Antibodies to thyroglobulin and to the thyroid hormones T3 and T4 may also be produced. Graves' disease occurs in about 0.5% of people. It occurs about 7.5 times more often in women than men. Often it starts between the ages of 40 and 60. It is the most common cause of hyperthyroidism (overactive thyroid) and general thyroid enlargement in developed countries.

[PMID 17823263OA-icon.png] A 2007 article titled "The Link between Graves’ Disease and Hashimoto’s Thyroiditis: A Role for Regulatory T Cells" reported that "Hyperthyroidism in Graves’ disease is caused by thyroid-stimulating autoantibodies to the TSH receptor (TSHR), whereas hypothyroidism in Hashimoto’s thyroiditis is associated with thyroid peroxidase and thyroglobulin autoantibodies. In some Graves’ patients, thyroiditis becomes sufficiently extensive to cure the hyperthyroidism with resultant hypothyroidism." They "suggest a role for Treg in the natural progression of hyperthyroid Graves' disease to Hashimoto's thyroiditis and hypothyroidism in humans."

[PMID 17903292OA-icon.png] A 2012 article "Delineating the autoimmune mechanisms in Graves’ disease" responded to the oversimplified view that Graves' disease involves TSHR antibodies in a single pathway that necessarily leads to hyperthyroidism and orbitopathy. They outlined how three types of TSHR antibodies (stimulating, blocking and neutral) function differently in various phenotypes of GD patients, who vary from hyperthyroid to hypothyroid. TSHR blocking antibodies may prevent TSHR from binding to the receptor to such an extent that they may induce hypothyroidism. They also explored several immune mechanisms by which thyroid gland cell death (apoptosis) occurs, resulting in hypothyroidism. Therefore, GD involves genetic risk via multiple gene polymorphisms that interact with epigenetics and environmental factors, and may have a variety of disease pathways and outcomes.

SNPs reported to be associated with risk for Graves' disease include:


See SNPedia's Autoimmune thyroiditis page for more info and citations.