rs10139757 - ITPK1
Magnitude 2.2 · 1 study on file
Reported associations
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Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease - Unknown journal (n.d.) · Unknown authors · PubMed 37872160
ABSTRACT: Thyroid hormones play a critical role in regulation of multiple physiological functions and thyroid dysfunction is associated with substantial morbidity. Here, we use electronic health records to undertake a genome-wide association study of thyroid-stimulating hormone (TSH) levels, with a total sample size of 247,107. We identify 158 novel genetic associations, more than doubling the number of known associations with TSH, and implicate 112 putative causal genes, of which 76 are not previously implicated. A polygenic score for TSH is associated with TSH levels in African, South Asian, East Asian, Middle Eastern and admixed American ancestries, and associated with hypothyroidism and other thyroid disease in South Asians. In Europeans, the TSH polygenic score is associated with thyr
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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Annual thyroid TSH and free T4 screening Moderate
Variant increases ITPK1 expression in thyroid tissue and associates with higher TSH levels, a marker of thyroid hormone regulation.
Annual TSH and free T4 screening; increase frequency if baseline TSH elevated or symptoms develop