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:

K Kapur, T Johnson, ND Beckmann, J Sehmi, T Tanaka, Z Kutalik, U Styrkarsdottir, W Zhang, D Marek, DF Gudbjartsson, Y Milaneschi, H Holm, A Diiorio, D Waterworth, Y Li, AB Singleton, US Bjornsdottir, G Sigurdsson, DG Hernandez, R Desilva, P Elliott, GI Eyjolfsson, JM Guralnik, J Scott, U Thorsteinsdottir, S Bandinelli, J Chambers, K Stefansson, G Waeber, L Ferrucci, JS Kooner, V Mooser, P Vollenweider, JS Beckmann, M Bochud, S Bergmann

TITLE:

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.

JOURNAL:

PLoS genetics Jul 2010, Vol 6, pp. e1001035

ABSTRACT:

Calcium has a pivotal role in biological functions, and serum calcium levels have been associated with numerous disorders of bone and mineral metabolism, as well as with cardiovascular mortality. Here we report results from a genome-wide association study of serum calcium, integrating data from four independent cohorts including a total of 12,865 individuals of European and Indian Asian descent. Our meta-analysis shows that serum calcium is associated with SNPs in or near the calcium-sensing receptor (CASR) gene on 3q13. The top hit with a p-value of 6.3 x 10(-37) is rs1801725, a missense variant, explaining 1.26% of the variance in serum calcium. This SNP had the strongest association in individuals of European descent, while for individuals of Indian Asian descent the top hit was rs17251221 (p = 1.1 x 10(-21)), a SNP in strong linkage disequilibrium with rs1801725. The strongest locus in CASR was shown to replicate in an independent Icelandic cohort of 4,126 individuals (p = 1.02 x 10(-4)). This genome-wide meta-analysis shows that common CASR variants modulate serum calcium levels in the adult general population, which confirms previous results in some candidate gene studies of the CASR locus. This study highlights the key role of CASR in calcium regulation. PUBMED: 20661308
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