rs11047526 - KNOP1P1 - RN7SL38P

Magnitude 2.2 · 1 study on file

Reported associations

• Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians. - Journal of human genetics (2016) · Vinayagamoorthy N, Yim SH, Jung SH, Park SW, Kim YJ, Kim BJ, Chung YJ · PubMed 25972035

  Calcium is a universal intracellular messenger that has an important role in controlling various cellular processes. In this study, we explored genetic polymorphisms to identify novel loci influencing serum calcium levels in East Asians through a two-stage genome-wide association study with the sample of 8642 unrelated Koreans (4558 for discovery and 4093 for replication). Using single-nucleotide polymorphism (SNP) arrays, we discovered 963 associated SNPs in stage 1, and replicated 105 SNPs among them in stage 2. We examined them in a combined set of stage 1 and 2 samples and observed that 65 SNPs were significantly associated with serum calcium levels. Among them, rs13068893 in the CASR gene showed the strongest significance (P=3.85 × 10(-8)). Considering the high allele frequency and s

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