rs112723370 - HCP5

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide meta-analysis reveals novel susceptibility loci for thyrotoxic periodic paralysis. - European journal of endocrinology (2020) · Hoi-Yee Li G, Cheung CL, Zhao SX, Song HD, Wai-Chee Kung A · PubMed 33105104

  Thyrotoxic periodic paralysis (TPP) is a rare and potentially fatal complication of hyperthyroidism. By meta-analysis of genome-wide association studies, we aim to discover novel susceptibility loci and understand the pathogenesis of TPP. This meta-analysis comprised 319 TPP cases and 3516 healthy controls from three independent cohorts (two from Hong Kong; one from Shanghai). Genetic variants in each cohort were separately genotyped, imputed and analyzed for association with TPP. Fixed-effect meta-analysis was performed to combine the data. Using the three independent genome-wide significant variants, a weighted genetic risk score (GRS) was developed. Of 7 077 246 variants tested for association with TPP, 260 variants reached genome-wide significance and were represented by independent va

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