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

Publication ,  Journal Article
O'Seaghdha, CM; Wu, H; Yang, Q; Kapur, K; Guessous, I; Zuber, AM; Köttgen, A; Stoudmann, C; Teumer, A; Kutalik, Z; Mangino, M; Dehghan, A ...
Published in: PLoS Genet
2013

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.

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Published In

PLoS Genet

DOI

EISSN

1553-7404

Publication Date

2013

Volume

9

Issue

9

Start / End Page

e1003796

Location

United States

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Mice
  • Kidney
  • Humans
  • Homeostasis
  • Genome-Wide Association Study
  • Gene Expression Regulation
  • Developmental Biology
  • Calcium
 

Citation

APA
Chicago
ICMJE
MLA
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O’Seaghdha, C. M., Wu, H., Yang, Q., Kapur, K., Guessous, I., Zuber, A. M., … Bochud, M. (2013). Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. PLoS Genet, 9(9), e1003796. https://doi.org/10.1371/journal.pgen.1003796
O’Seaghdha, Conall M., Hongsheng Wu, Qiong Yang, Karen Kapur, Idris Guessous, Annie Mercier Zuber, Anna Köttgen, et al. “Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.PLoS Genet 9, no. 9 (2013): e1003796. https://doi.org/10.1371/journal.pgen.1003796.
O’Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, et al. Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. PLoS Genet. 2013;9(9):e1003796.
O’Seaghdha, Conall M., et al. “Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.PLoS Genet, vol. 9, no. 9, 2013, p. e1003796. Pubmed, doi:10.1371/journal.pgen.1003796.
O’Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, Köttgen A, Stoudmann C, Teumer A, Kutalik Z, Mangino M, Dehghan A, Zhang W, Eiriksdottir G, Li G, Tanaka T, Portas L, Lopez LM, Hayward C, Lohman K, Matsuda K, Padmanabhan S, Firsov D, Sorice R, Ulivi S, Brockhaus AC, Kleber ME, Mahajan A, Ernst FD, Gudnason V, Launer LJ, Mace A, Boerwinckle E, Arking DE, Tanikawa C, Nakamura Y, Brown MJ, Gaspoz J-M, Theler J-M, Siscovick DS, Psaty BM, Bergmann S, Vollenweider P, Vitart V, Wright AF, Zemunik T, Boban M, Kolcic I, Navarro P, Brown EM, Estrada K, Ding J, Harris TB, Bandinelli S, Hernandez D, Singleton AB, Girotto G, Ruggiero D, d’Adamo AP, Robino A, Meitinger T, Meisinger C, Davies G, Starr JM, Chambers JC, Boehm BO, Winkelmann BR, Huang J, Murgia F, Wild SH, Campbell H, Morris AP, Franco OH, Hofman A, Uitterlinden AG, Rivadeneira F, Völker U, Hannemann A, Biffar R, Hoffmann W, Shin S-Y, Lescuyer P, Henry H, Schurmann C, SUNLIGHT Consortium, GEFOS Consortium, Munroe PB, Gasparini P, Pirastu N, Ciullo M, Gieger C, März W, Lind L, Spector TD, Smith AV, Rudan I, Wilson JF, Polasek O, Deary IJ, Pirastu M, Ferrucci L, Liu Y, Kestenbaum B, Kooner JS, Witteman JCM, Nauck M, Kao WHL, Wallaschofski H, Bonny O, Fox CS, Bochud M. Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. PLoS Genet. 2013;9(9):e1003796.

Published In

PLoS Genet

DOI

EISSN

1553-7404

Publication Date

2013

Volume

9

Issue

9

Start / End Page

e1003796

Location

United States

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Mice
  • Kidney
  • Humans
  • Homeostasis
  • Genome-Wide Association Study
  • Gene Expression Regulation
  • Developmental Biology
  • Calcium