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Title: Meta-analysis of genome-wide association studies identifies six new loci for serum calcium concentrations
Authors: Bonny, Olivier
Wu, Hongsheng
Yang, Qiong
Kapur, Karen
Guessous, Idris
Zuber, Annie Mercier
Köttgen, Anna
Stoudmann, Candice
Teumer, Alexander
Kutalik, Zoltán
Mangino, Massimo
Dehghan, Abbas
Zhang, Weihua
Eiriksdottir, Gudny
Li, Guo
Tanaka, Toshiko
Portas, Laura
Bochud, Murielle
Hayward, Caroline
Lohman, Kurt
Gudnason, Vilmundur
Mace, Aurelien
Boerwinckle, Eric
Matsuda, Koichi
Padmanabhan, Sandosh
Firsov, Dmitri
Sorice, Rossella
Ulivi, Sheila
Brockhaus, A. Catharina
Mahajan, Anubha
Tanikawa, Chizu
Nakamura, Yusuke
Gaspoz, Jean-Michel
Theler, Jean-Marc
Bergmann, Sven
Vollenweider, Peter
Vitart, Veronique
Zemunik, Tatijana
Boban, Mladen
Kolcic, Ivana
Navarro, Pau
Estrada, Karol
Ding, Jingzhong
Bandinelli, Stefania
Hernandez, Dena
Girotto, Giorgia
Ruggiero, Daniela
Liu, Yongmei
Kestenbaum, Bryan
Nauck, Matthias
d'Adamo, Adamo Pio
Robino, Antonietta
Meitinger, Thomas
Meisinger, Christa
Davies, Gail
Huang, Jie
Murgia, Federico
Campbell, Harry
Hofman, Albert
Rivadeneira, Fernando
Völker, Uwe
Hannemann, Anke
Biffar, Reiner
Hoffmann, Wolfgang
Shin, So–Youn
Lescuyer, Pierre
Henry, Hughes
Schurmann, Claudia
Gasparini, Paolo
Pirastu, Nicola
Ciullo, Marina
Gieger, Christian
März, Winfried
Lind, Lars
Rudan, Igor
Polasek, Ozren
Pirastu, Mario
Ferrucci, Luigi
Kao, W. H. Linda
Wallaschofski, Henri
Kleber, Marcus E.
Ernst, Florian D.
Launer, Lenore J.
Arking, Dan E.
Brown, Morris J.
Siscovick, David S.
Psaty, Bruce M.
Wild, Sarah H.
Uitterlinden, Andre G.
Wright, Alan F.
Brown, Edward M.
Harris, Tamara B.
Singleton, Andrew B.
Starr, John M.
Boehm, Bernhard O.
Winkelmann, Bernhard R.
Deary, Ian J.
Kooner, Jaspal S.
Witteman, Jacqueline C. M.
Fox, Caroline S.
Morris, Andrew P.
Franco, Oscar H.
Munroe, Patricia B.
Spector, Tim D.
Smith, Albert V.
Wilson, James F.
O'Seaghdha, Conall M.
Lopez, Lorna M.
Chambers, John Campbell
Keywords: DRNTU::Science::Medicine
Issue Date: 2013
Source: O'Seaghdha, C. M., Wu, H., Yang, Q., Kapur, K., Guessous, I., Zuber, A. M., et al. (2013). Meta-analysis of genome-wide association studies identifies six new loci for serum calcium concentrations. PLoS Genetics, 9(9), e1003796-.
Series/Report no.: PLoS Genetics
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.
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1003796
Rights: © 2013 The Authors. This paper was published in PLoS Genetics and is made available as an electronic reprint (preprint) with permission of the authors. The paper can be found at the following official DOI: []. One print or electronic copy may be made for personal use only. Systematic or multiple reproduction, distribution to multiple locations via electronic or other means, duplication of any material in this paper for a fee or for commercial purposes, or modification of the content of the paper is prohibited and is subject to penalties under law.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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