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

Détails

Ressource 1Télécharger: BIB_A16A030D2C1D.P001.pdf (414.94 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_A16A030D2C1D
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
Périodique
PLoS genetics
Auteur⸱e⸱s
Kapur K., Johnson T., Beckmann N.D., Sehmi J., Tanaka T., Kutalik Z., Styrkarsdottir U., Zhang W., Marek D., Gudbjartsson D.F., Milaneschi Y., Holm H., Diiorio A., Waterworth D., Li Y., Singleton A.B., Bjornsdottir U.S., Sigurdsson G., Hernandez D.G., Desilva R., Elliott P., Eyjolfsson G.I., Guralnik J.M., Scott J., Thorsteinsdottir U., Bandinelli S., Chambers J., Stefansson K., Waeber G., Ferrucci L., Kooner J.S., Mooser V., Vollenweider P., Beckmann J.S., Bochud M., Bergmann S.
ISSN
1553-7404 (Electronic)
ISSN-L
1553-7390
Statut éditorial
Publié
Date de publication
22/07/2010
Peer-reviewed
Oui
Volume
6
Numéro
7
Pages
e1001035
Langue
anglais
Notes
Publication types: Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Résumé
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.

Mots-clé
Calcium/blood, European Continental Ancestry Group/statistics & numerical data, Genome, Human, Genome-Wide Association Study/statistics & numerical data, Humans, Polymorphism, Single Nucleotide, Receptors, Calcium-Sensing/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/07/2010 15:04
Dernière modification de la notice
20/08/2019 15:07
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