rs12451295 - CALM2P1 - CASC17
Magnitude 4.5 · 1 study on file
Reported associations
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Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults - Unknown journal (n.d.) · Unknown authors · PubMed 31050781
ABSTRACT: Key Points Question Is thyrotoxic periodic paralysis (TPP) a molecular subtype of Graves disease? Findings In this case-control study in a Chinese Han population, 5 TPP susceptibility loci were identified, including 3 specific loci and 2 loci shared by Graves disease and TPP. The ratio of persistent thyrotropin receptor antibody positivity was higher in TPP than in Graves disease, and TPP could be predicted from Graves disease using TPP-specific loci. Meaning A complete genetic architecture will be helpful to understand the pathophysiology of TPP, and a useful prediction model could prevent the onset of TPP, suggesting TPP as a molecular subtype of Graves disease. This population-based case-control study uses a 2-stage genome-wide association study to evaluate the association of
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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serum potassium if thyroid disorder diagnosed Moderate
rs12451295 risk allele associates with reduced KCNJ2 inward rectifier potassium channel expression in skeletal muscle; thyrotoxic periodic paralysis cases show mean serum potassium 2.1 mEq/L (normal 3.5-5.1) during acute episodes
Baseline potassium measurement at thyroid dysfunction diagnosis; periodic monitoring during thyrotoxicosis treatment
Discuss with your doctor
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thyrotoxic periodic paralysis risk during thyroid disease treatment Moderate
rs12451295 C allele shows genome-wide significant association with thyrotoxic hypokalemic periodic paralysis (OR 1.61, p=2.41e-13); higher frequency in Asian populations; treatment choice affects TPP recurrence risk, with persistent thyrotropin-receptor antibody higher in TPP versus non-TPP Graves disease patients after antithyroid drug therapy
If diagnosed with Graves disease or hyperthyroidism, discuss TPP risk stratification and treatment preference (radioactive iodine preferred over antithyroid drugs for risk carriers)