rs10739496 - PTCSC2
Magnitude 2.2 · 2 studies on file
Reported associations
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Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases - Unknown journal (n.d.) · Unknown authors · PubMed 41644669
ABSTRACT: Thyroid diseases are common and highly heritable. We performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: thyroid cancer (ThC), benign nodular goiter, Graves' disease, lymphocytic thyroiditis and primary hypothyroidism. We analyzed genetic association data from ~2.9 million genomes and identified 313 known and 570 new independent loci linked to thyroid diseases. We discovered genetic correlations between ThC, benign nodular goiter and autoimmune thyroid diseases (rg = 0.16-0.97). Telomere maintenance genes contributed to benign and malignant thyroid nodular disease risk, whereas cell cycle, DNA repair and damage response genes were associated with ThC. We propose a paradigm that explains genetic predisposition to benign
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Genome-wide association study and polygenic risk prediction of hypothyroidism - Unknown journal (n.d.) · Unknown authors · PubMed 41238958
ABSTRACT: We performed a genome-wide meta-analysis of hypothyroidism (113,393 cases and 1,065,268 controls), free thyroxine (191,449 individuals) and thyroid-stimulating hormone (482,873 individuals). We identified 350 loci associated with hypothyroidism, including 179 not previously reported, 29 of which were linked through thyroid-stimulating hormone. We found that many hypothyroidism risk loci regulate blood cell counts and the circulating inflammasome, and through multiple gene-mapping strategies, we prioritized 259 putative causal genes enriched in immune-related functions. We developed a polygenic risk score (PRS) based on more than 115,000 hypothyroidism cases to address diagnostic challenges in individuals with or at risk of thyroid hormone deficiency. We show that the highest pred
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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Annual thyroid function and autoimmune antibody monitoring High
Variant affects circulating thyroxine levels and increases genetic susceptibility to thyroid autoimmunity
Annual TSH, Free T4, and anti-TPO antibody testing; increase frequency if antibodies positive
Screening
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Baseline thyroid function and autoimmune antibody testing High
Variant alters expression of thyroid-regulatory genes and substantially increases genetic susceptibility to autoimmune thyroiditis
Establish baseline TSH, Free T4, and anti-TPO antibody levels