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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. | URI: | https://hdl.handle.net/10356/100291 http://hdl.handle.net/10220/18635 |
ISSN: | 1553-7404 | DOI: | 10.1371/journal.pgen.1003796 | Schools: | Lee Kong Chian School of Medicine (LKCMedicine) | 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: [http://dx.doi.org/10.1371/journal.pgen.1003796]. 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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