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:

CM O'Seaghdha, H Wu, Q Yang, K Kapur, I Guessous, AM Zuber, A Köttgen, C Stoudmann, A Teumer, Z Kutalik, M Mangino, A Dehghan, W Zhang, G Eiriksdottir, G Li, T Tanaka, L Portas, LM Lopez, C Hayward, K Lohman, K Matsuda, S Padmanabhan, D Firsov, R Sorice, S Ulivi, AC Brockhaus, ME Kleber, A Mahajan, FD Ernst, V Gudnason, LJ Launer, A Mace, E Boerwinckle, DE Arking, C Tanikawa, Y Nakamura, MJ Brown, JM Gaspoz, JM Theler, DS Siscovick, BM Psaty, S Bergmann, P Vollenweider, V Vitart, AF Wright, T Zemunik, M Boban, I Kolcic, P Navarro, EM Brown, K Estrada, J Ding, TB Harris, S Bandinelli, D Hernandez, AB Singleton, G Girotto, D Ruggiero, AP d'Adamo, A Robino, T Meitinger, C Meisinger, G Davies, JM Starr, JC Chambers, BO Boehm, BR Winkelmann, J Huang, F Murgia, SH Wild, H Campbell, AP Morris, OH Franco, A Hofman, AG Uitterlinden, F Rivadeneira, U Völker, A Hannemann, R Biffar, W Hoffmann, SY Shin, P Lescuyer, H Henry, C Schurmann, PB Munroe, P Gasparini, N Pirastu, M Ciullo, C Gieger, W März, L Lind, TD Spector, AV Smith, I Rudan, JF Wilson, O Polasek, IJ Deary, M Pirastu, L Ferrucci, Y Liu, B Kestenbaum, JS Kooner, JC Witteman, M Nauck, WH Kao, H Wallaschofski, O Bonny, CS Fox, M Bochud

TITLE:

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

JOURNAL:

PLoS genetics None 2013, Vol 9, pp. e1003796

ABSTRACT:

Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in ≤ 21,679 additional individuals. Seven loci (six new regions) in association with serum calcium were identified and replicated. Rs1570669 near CYP24A1 (P = 9.1E-12), rs10491003 upstream of GATA3 (P = 4.8E-09) and rs7481584 in CARS (P = 1.2E-10) implicate regions involved in Mendelian calcemic disorders: Rs1550532 in DGKD (P = 8.2E-11), also associated with bone density, and rs7336933 near DGKH/KIAA0564 (P = 9.1E-10) are near genes that encode distinct isoforms of diacylglycerol kinase. Rs780094 is in GCKR. We characterized the expression of these genes in gut, kidney, and bone, and demonstrate modulation of gene expression in bone in response to dietary calcium in mice. Our results shed new light on the genetics of calcium homeostasis. PUBMED: 24068962
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