Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

Autor: Kemp, JP, Morris, JA, Medina-Gomez, C, Forgetta, V, Warrington, NM, Youlten, SE, Zheng, J, Gregson, CL, Grundberg, E, Trajanoska, K, Logan, JC, Pollard, AS, Sparkes, PC, Ghirardello, EJ, Allen, R, Butterfield, NC, Komla-Ebri, D, Adoum, AT, Curry, KF, White, JK, Kussy, F, Greenlaw, KM, Xu, C, Harvey, NC, Cooper, C, Adams, DJ, Greenwood, CMT, Maurano, MT, Kaptoge, SK, Rivadeneira, F, Tobias, JH, Croucher, PI, Ackert-Bicknell, C, Bassett, JHD, Williams, GR, Richards, JB, Evans, DM

Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study in 142,487 individuals from the UK Biobank to identify loci associated with BMD estimated by quantitative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b00a021d00674188a5f523e4f28f8eb
https://www.repository.cam.ac.uk/handle/1810/267772

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.

Autor: Swan AL; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom., Schütt C; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Rozman J; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Czech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences,Vestec, Czech Republic., Del Mar Muñiz Moreno M; Université de Strasbourg, CNRS, INSERM, IGBMC, Illkirch, France., Brandmaier S; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Research Unit of Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany., Simon M; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom., Leuchtenberger S; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Griffiths M; Mouse Informatics Group, Wellcome Sanger Institute, Hinxton, United Kingdom., Brommage R; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Keskivali-Bond P; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom., Grallert H; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Research Unit of Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany., Werner T; Internal Medicine Nephrology and Center for Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America., Teperino R; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Becker L; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Miller G; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Moshiri A; University of California-Davis School of Medicine, Sacramento, California, United States of America., Seavitt JR; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Cissell DD; Department of Surgical & Radiological Sciences, University of California, Davis, California, United States of America., Meehan TF; European Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Acar EF; The Center for Phenogenomics, Toronto, Ontario, Canada.; The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Department of Statistics, University of Manitoba, Winnipeg, Manitoba, Canada., Lelliott CJ; Mouse Pipelines, Wellcome Sanger Institute, Hinxton, United Kingdom., Flenniken AM; The Center for Phenogenomics, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada., Champy MF; Université de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France., Sorg T; Université de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France., Ayadi A; Université de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France., Braun RE; The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America., Cater H; MRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom., Dickinson ME; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Departments of Molecular Physiology & Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston,Texas, United States of America., Flicek P; European Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Gallegos J; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, United States of America., Ghirardello EJ; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom., Heaney JD; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, United States of America., Jacquot S; Université de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France., Lally C; MRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom., Logan JG; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom., Teboul L; MRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom., Mason J; European Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Spielmann N; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., McKerlie C; The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Murray SA; The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America., Nutter LMJ; The Center for Phenogenomics, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada., Odfalk KF; Advanced Technologies Cores, Baylor College of Medicine, One Baylor Plaza, Houston Texas, United States of America., Parkinson H; European Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Prochazka J; Czech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences,Vestec, Czech Republic., Reynolds CL; Departments of Molecular Physiology & Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston,Texas, United States of America., Selloum M; Université de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France., Spoutil F; Czech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences,Vestec, Czech Republic., Svenson KL; The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America., Vales TS; Advanced Technologies Cores, Baylor College of Medicine, One Baylor Plaza, Houston Texas, United States of America., Wells SE; MRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom., White JK; The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America., Sedlacek R; Czech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences,Vestec, Czech Republic., Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technische Universität München, Freising, Germany.; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Adolf-Butenandt-Institut, Ludwig-Maximilians-Universität München, Munich, Germany., Lloyd KCK; Department of Surgery, School of Medicine and Mouse Biology Program, University of California Davis., Croucher PI; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St Vincent's Clinical School, Faculty of Medicine, Sydney, New South Wales, Australia.; School of Biotechnology and Biomolecular Sciences, UNSW Australia, Sydney, New South Wales, Australia., Fuchs H; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom., Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom., Gailus-Durner V; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Herault Y; Université de Strasbourg, CNRS, INSERM, IGBMC, Illkirch, France.; Université de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France., Mallon AM; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom., Brown SDM; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom., Mayer-Kuckuk P; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany., Hrabe de Angelis M; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences (SoLS), Technische Universität München, Freising, Germany.

Publikováno v: PLoS genetics [PLoS Genet] 2020 Dec 28; Vol. 16 (12), pp. e1009190. Date of Electronic Publication: 2020 Dec 28 (Print Publication: 2020).

An atlas of genetic influences on osteoporosis in humans and mice.

Autor: Morris JA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Kemp JP; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK., Youlten SE; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Laurent L; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Logan JG; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Chai RC; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Vulpescu NA; Institute for Systems Genetics, New York University Langone Medical Center, New York, NY, USA., Forgetta V; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Kleinman A; Department of Research, 23andMe, Inc., Mountain View, CA, USA., Mohanty ST; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Sergio CM; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Quinn J; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Nguyen-Yamamoto L; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Luco AL; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Vijay J; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Simon MM; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Pramatarova A; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Medina-Gomez C; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Trajanoska K; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Ghirardello EJ; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Butterfield NC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Curry KF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Leitch VD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Sparkes PC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Adoum AT; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Mannan NS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Komla-Ebri DSK; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Pollard AS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Dewhurst HF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Hassall TAD; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia., Beltejar MG; Department of Biomedical Genetics, University of Rochester, Rochester, NY, USA., Adams DJ; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Vaillancourt SM; Department of Medicine, McGill University, Montréal, Québec, Canada., Kaptoge S; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Baldock P; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Cooper C; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Reeve J; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Ntzani EE; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.; Center for Evidence Synthesis in Health, Department of Health Services, Policy and Practice, School of Public Health, Brown University, Providence, RI, USA., Evangelou E; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.; Department of Epidemiology and Biostatistics, Imperial College London, London, UK., Ohlsson C; Department of Internal Medicine and Clinical Nutrition, University of Gothenburg, Gothenburg, Sweden., Karasik D; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA., Rivadeneira F; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Kiel DP; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA., Tobias JH; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Gregson CL; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Harvey NC; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK., Grundberg E; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada.; Children's Mercy Hospitals and Clinics, Kansas City, MO, USA., Goltzman D; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Adams DJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Lelliott CJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hinds DA; Department of Research, 23andMe, Inc., Mountain View, CA, USA., Ackert-Bicknell CL; Center for Musculoskeletal Research, Department of Orthopaedics, University of Rochester, Rochester, NY, USA., Hsu YH; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA., Maurano MT; Institute for Systems Genetics, New York University Langone Medical Center, New York, NY, USA., Croucher PI; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Williams GR; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Bassett JHD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Evans DM; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia. d.evans1@uq.edu.au.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK. d.evans1@uq.edu.au., Richards JB; Department of Human Genetics, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Medicine, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Epidemiology, Biostatistics & Occupational Health, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. brent.richards@mcgill.ca.

Publikováno v: Nature genetics [Nat Genet] 2019 Feb; Vol. 51 (2), pp. 258-266. Date of Electronic Publication: 2018 Dec 31.