Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. (Articolo in rivista)

Type
Label
  • Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1371/journal.pgen.1003796 (literal)
Alternative label
  • O'Seaghdha CM1, 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 JM, Theler JM, 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 SY, 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 JC, Nauck M, Kao WH, Wallaschofski H, Bonny O, Fox CS, Bochud M. (2013)
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    in PLOS genetics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • O'Seaghdha CM1, 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 JM, Theler JM, 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 SY, 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 JC, Nauck M, Kao WH, Wallaschofski H, Bonny O, Fox CS, Bochud M. (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1National Heart, Lung, and Blood Institute's Framingham Heart Study and Center for Population Studies, Framingham, Massachusetts, United States of America 2Renal Division, Massachusetts General Hospital, Boston, Massachusetts, United States of America 3Department of Biostatistics, Boston University, Boston, Massachusetts, United States of America 4Department of Medical Biology, University of Split, School of Medicine, Split, Croatia 5Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland 6Institute of Social and Preventive Medicine (IUMSP), Lausanne University Hospital, Lausanne, Switzerland 7Unit of Population Epidemiology, Division of Primary Care Medicine, Department of Community Medicine and Primary Care and Emergency Medicine, Geneva University Hospitals, Geneva, Switzerland 8Geriatric Unit, Azienda Sanitaria Firenze (ASF), Florence, Italy 9Department of Pharmacology and Toxicology, University of Lausanne, Lausanne, Switzerland 10Renal Division, Freiburg University Hospital, Freiburg, Germany 11Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America 12Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany 13Swiss Institute of Bioinformatics, Lausanne, Switzerland 14King's College London, St. Thomas' Hospital Campus, London, United Kingdom 15Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands 16Catheter Lab, Cardiology, Ealing Hospital, Southall, Middlesex, United Kingdom 17Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, United Kingdom 18Icelandic Heart Association Research Institute, Kopavogur, Iceland 19Cardiovascular Health Research Unit, University of Washington, Seattle, Washington, United States of America 20Clinical Research Branch, National Institute on Aging, Baltimore, Maryland, United States of America 21Institute of Population Genetics, CNR-Traversa La Crucca, Reg. Baldinca Li Punti, Sassari, Italy 22Centre for Cognitive Ageing and Cognitive Epidemiology, The University of Edinburgh, Edinburgh, United Kingdom 23MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom 24Cardiology Group, ClinPhenomics GmbH&Co KG, Frankfurt-Sachsenhausen, Germany 25Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan 26BHF Glasgow Cardiovascular Research Centre, Division of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, Scotland 27Institute of Genetics and Biophysics 'Adriano-Buzzati Traverso', CNR, Napoli, Italy 28Institute for Maternal and Child Health - IRCCS \"Burlo Garofolo\", Trieste, Italy 29Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany 30Department of Medicine I, University Hospital Grosshadern, Ludwig-Maximilians University Munich, Munich, Germany 31Department of Internal Medicine II - Cardiology, University of Ulm Medical Centre, Ulm, Germany 32Mannheim Institute of Public Health, Social and Preventive Medicine, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany 33Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom 34University of Iceland, Reykjavik, Iceland 35Laboratory of Epidemiology, Demography and Biometry, National Institute on Aging, Bethesda, Maryland, United States of America 36University of Texas Health Science Center at Houston, Houston, Texas, United States of America 37McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America 38Cambridge Institute of Medical Research, University of Cambridge, Cambridge, United Kingdom 39Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands 40Departments of Medicine and Epidemiology, University of Washington, Seattle, Washington, United States of America 41Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America 42Departments of Medicine, Epidemiology and Health Services, University of Washington, Seattle, Washington, United States of America 43Department of Medicine, Internal Medicine, Lausanne University Hospital, Lausanne, Switzerland 44Faculty of Medicine, University of Split, Split, Croatia 45Department of Pharmacology, Faculty of Medicine, University of Split, Split, Croatia 46Division of Laboratory Medicine, Geneva University Hospitals, Geneva, Switzerland 47Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America 48Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom 49Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America 50Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany 51Department of Computer Science and Networking, Wentworth Institute of Technology, Boston, Massachusetts, United States of America 52Institute of Epidemiology II, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany 53Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom 54Ulm University Medical Centre, Department of Internal Medicine I, Ulm University, Ulm, Germany 55LKC School of Medicine, Imperial College London and Nanyang Technological University, Singapore, Singapore 56Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, United States of America 57Division of Primary Care Medicine, Department of Community Medicine and Primary Care and Emergency Medicine , Geneva University Hospitals, Geneva, Switzerland 58Centre for Population Health Sciences, The University of Edinburgh Medical School, Edinburgh, Scotland, United Kingdom 59Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Ernst-Moritz-Arndt University Greifswald, Greifswald, Germany 60Department of Prosthetic Dentistry, Gerostomatology and Dental Materials, University Medicine Greifswald, Greifswald, Germany 61Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany 62Human Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom 63Department of Biostatistical Sciences, Division of Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America 64Clinical Chemistry Laboratory, Lausanne University Hospital, Lausanne, Switzerland 65William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom 66Synlab Centre of Laboratory Diagnostics, Heidelberg, Germany 67Institute of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden 68Department of Epidemiology and Prevention, Division of Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America 69Department of Medicine, Division of Nephrology, University of Washington, Seattle, Washington, United States of America 70Faculty of Medicine, National Heart & Lung Institute, Cardiovascular Science, Hammersmith Hospital, Hammersmith Campus, Imperial College London, London, United Kingdom 71Imperial College Healthcare NHS Trust, London, United Kingdom 72Welch Center for Prevention, Epidemiology and Clinical Research, John Hopkins University, Baltimore, Maryland, United States of America 73Service of Nephrology, Lausanne University Hospital, Lausanne, Switzerland 74Division of Endocrinology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America University of Michigan, United States of America #Contributed equally. (literal)
Titolo
  • Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. (literal)
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. (literal)
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