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O'Seaghdha, C.M.* ; Wu, H.* ; Yang, Q.* ; Kapur, K.* ; Guessous, I.* ; Zuber, A.M.* ; Köttgen, A.* ; Stoudmann, C.* ; Teumer, A.* ; Kutalik, Z.* ; Mangino, M.* ; Dehghan, A.* ; Zhang, W.* ; Eiriksdottir, G.* ; Li, G.* ; Tanaka, T.* ; Portas, L.* ; Lopez, L.M.* ; Hayward, C.* ; Lohman, K.* ; Matsuda, K.* ; Padmanabhan, S.* ; Firsov, D.* ; Sorice, R.* ; Ulivi, S.* ; Brockhaus, A.C. ; Kleber, M.E.* ; Mahajan, A.* ; Ernst, F.D.* ; Gudnason, V.* ; Launer, L.J.* ; Mace, A.* ; Boerwinckle, E.* ; Arking, D.E.* ; Tanikawa, C.* ; Nakamura, Y.* ; Brown, M.J.* ; Gaspoz, J.M.* ; Theler, J.M.* ; Siscovick, D.S.* ; Psaty, B.M.* ; Bergmann, S.* ; Vollenweider, P.* ; Vitart, V.* ; Wright, A.F.* ; Zemunik, T.* ; Boban, M.* ; Kolcic, I.* ; Navarro, P.* ; Brown, E.M.* ; Estrada, K.* ; Ding, J.* ; Harris, T.B.* ; Bandinelli, S.* ; Hernandez, D.* ; Singleton, A.B.* ; Girotto, G.* ; Ruggiero, D.* ; d'Adamo, A.P.* ; Robino, A.* ; Meitinger, T. ; Meisinger, C. ; Davies, G.* ; Starr, J.M.* ; Chambers, J.C.* ; Boehm, B.O.* ; Winkelmann, B.R.* ; Huang, J.* ; Murgia, F.* ; Wild, S.H.* ; Campbell, H.* ; Morris, A.P.* ; Franco, O.H.* ; Hofman, A.* ; Uitterlinden, A.G.* ; Rivadeneira, F.* ; Völker, U.* ; Hannemann, A.* ; Biffar, R.* ; Hoffmann, W.* ; Shin, S.Y.* ; Lescuyer, P.* ; Henry, H.* ; Schurmann, C.* ; SUNLIGHT Consortium (*) ; GEFOS Consortium (*) ; Munroe, P.B.* ; Gasparini, P.* ; Pirastu, N.* ; Ciullo, M.* ; Gieger, C. ; Marz, W.* ; Lind, L.* ; Spector, T.D.* ; Smith, A.V.* ; Rudan, I.* ; Wilson, J.F.* ; Polasek, O.* ; Deary, I.J.* ; Pirastu, M.* ; Ferrucci, L.* ; Liu, Y.* ; Kestenbaum, B.* ; Kooner, J.S.* ; Witteman, J.C.* ; Nauck, M.* ; Kao, W.H.* ; Wallaschofski, H.* ; Bonny, O.* ; Fox, C.S.* ; Bochud, M.*

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

PLoS Genet. 9:e1003796 (2013)
Verlagsversion Volltext DOI PMC
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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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Imprinted Phlda2 Gene ; Vitamin-d Metabolism ; Parathyroid-hormone ; Phosphate Homeostasis ; Placental Expression ; Urogenital System ; Renal-function ; Mammary-gland ; Birth-weight ; Plasma
Sprache englisch
Veröffentlichungsjahr 2013
HGF-Berichtsjahr 2013
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Zeitschrift PLoS Genetics
Quellenangaben Band: 9, Heft: 9, Seiten: , Artikelnummer: e1003796 Supplement: ,
Verlag Public Library of Science (PLoS)
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504100-001
G-500700-001
G-504000-006
PubMed ID 24068962
DOI 10.1371/journal.pgen.1003796
WOS ID WOS:000325076600054
Scopus ID 84884683733
Erfassungsdatum 2013-10-18
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