STUDY TITLE: FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease
SUMMARY: Identification of 99 genetic variants associated with autoimmune thyroid disease.
OVERVIEW: The human immune system evolved to defend our bodies against disease-causing microorganisms. However, sometimes a person’s immune system may attack the body’s own cells, causing an autoimmune disease. When the immune system attacks and destroys the thyroid gland, a bowtie-shaped, hormone-producing organ in the neck, it can slow the heartbeat, cause weight gain, and lead to feeling cold, tired, and depressed. This study examined genetic data of over 30,000 patients with autoimmune thyroid disease and over 700,000 healthy controls (European ancestry) and discovered 99 genetic variants, 84 of which are novel, that are associated with autoimmune thyroid disease. One of the discovered variants reduces the production of the FLT3 receptor. In response, the body produces more of the signaling molecule that binds to the FLT3 receptor protein, which affects the function of the immune system and increases the risk of autoimmune thyroid disease.
DID YOU KNOW? Hashimoto’s disease and Grave’s disease are both caused by the immune system attacking the thyroid gland. In Hashimoto’s disease, the immune system kills thyroid cells, leading to reduced function of the thyroid gland. In Grave’s disease, the immune system actually stimulates the thyroid cells which results in overproduction of thyroid hormones. [SOURCE]
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THYROID DISEASE-ASSOCIATED VARIANTS: rs9272426, rs2476601, rs3184504, rs925489, rs231775, rs371058848, rs654537, rs7568275, rs13080163, rs2757041, rs4409785, rs71508903, rs229527, rs6535628, rs7090530, rs3764022, rs76428106, rs17364832, rs11052754, rs11675342, rs2921071, rs1534430, rs4293777, rs397746317, rs6914622, rs7173565, rs10742340, rs10686842, rs2445610, rs61759532, rs11079788, rs71198528, rs12582330, rs76226393, rs78534766, rs7441808, rs9533118, rs1990760, rs1050976, rs2123340, rs244688, rs34205992, rs6457834, rs34536443, rs35667974, rs4841567, rs61382, rs2069556, rs2745803, rs146750254, rs6867654, rs3775291, rs301802, rs13250295, rs10748781, rs911760, rs9494389, rs9878908, rs926103, rs202157095, rs6505765, rs12117927, rs2271194, rs2234167, rs114378220, rs11714843, rs7831557, rs7251, rs12697352, rs3784099, rs1991797, rs763361, rs2823272, rs1257920, rs11720041, rs11898293, rs2111567, rs61776678, rs1214598, rs9683415, rs4320727, rs111352680, rs7218886, rs72922276, rs12114596, rs7428218, rs221796, rs7758816, rs1561924, rs1045216, rs607404, rs12756886, rs1079418, rs7594497, rs12793348, rs1058900, rs35677470, rs8053655, rs2681417
ADDITIONAL RESOURCES:
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WEEKLY UPDATE: July 3, 2020
