DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Calcium levels. The EFO term calcium measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: calcium measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

N Vinayagamoorthy, SH Yim, SH Jung, SW Park, YJ Kim, BJ Kim, YJ Chung

TITLE:

Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.

JOURNAL:

Journal of human genetics Aug 2015, Vol 60, pp. 407-12

ABSTRACT:

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 significance level of the rs13068893C>G in the CASR gene, this SNP may have a key role in regulating the serum calcium level. We also successfully replicated the four loci (CASR, CSTA, DGKD and GCKR) using our data set that have been previously reported to be significantly associated with calcium levels in Europeans and Indians. Further studies with more East Asian subjects or meta-analyses on them may enable validation of our results and identification of novel genetic loci associated with serum calcium levels. PUBMED: 25972035
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