Nature Communications (Sep 2017)
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
- Aurélien Macé,
- Marcus A. Tuke,
- Patrick Deelen,
- Kati Kristiansson,
- Hannele Mattsson,
- Margit Nõukas,
- Yadav Sapkota,
- Ursula Schick,
- Eleonora Porcu,
- Sina Rüeger,
- Aaron F. McDaid,
- David Porteous,
- Thomas W. Winkler,
- Erika Salvi,
- Nick Shrine,
- Xueping Liu,
- Wei Q. Ang,
- Weihua Zhang,
- Mary F. Feitosa,
- Cristina Venturini,
- Peter J. van der Most,
- Anders Rosengren,
- Andrew R. Wood,
- Robin N. Beaumont,
- Samuel E. Jones,
- Katherine S. Ruth,
- Hanieh Yaghootkar,
- Jessica Tyrrell,
- Aki S. Havulinna,
- Harmen Boers,
- Reedik Mägi,
- Jennifer Kriebel,
- Martina Müller-Nurasyid,
- Markus Perola,
- Markku Nieminen,
- Marja-Liisa Lokki,
- Mika Kähönen,
- Jorma S. Viikari,
- Frank Geller,
- Jari Lahti,
- Aarno Palotie,
- Päivikki Koponen,
- Annamari Lundqvist,
- Harri Rissanen,
- Erwin P. Bottinger,
- Saima Afaq,
- Mary K. Wojczynski,
- Petra Lenzini,
- Ilja M. Nolte,
- Thomas Sparsø,
- Nicole Schupf,
- Kaare Christensen,
- Thomas T. Perls,
- Anne B. Newman,
- Thomas Werge,
- Harold Snieder,
- Timothy D. Spector,
- John C. Chambers,
- Seppo Koskinen,
- Mads Melbye,
- Olli T. Raitakari,
- Terho Lehtimäki,
- Martin D. Tobin,
- Louise V. Wain,
- Juha Sinisalo,
- Annette Peters,
- Thomas Meitinger,
- Nicholas G. Martin,
- Naomi R. Wray,
- Grant W. Montgomery,
- Sarah E. Medland,
- Morris A. Swertz,
- Erkki Vartiainen,
- Katja Borodulin,
- Satu Männistö,
- Anna Murray,
- Murielle Bochud,
- Sébastien Jacquemont,
- Fernando Rivadeneira,
- Thomas F. Hansen,
- Albertine J. Oldehinkel,
- Massimo Mangino,
- Michael A. Province,
- Panos Deloukas,
- Jaspal S. Kooner,
- Rachel M. Freathy,
- Craig Pennell,
- Bjarke Feenstra,
- David P. Strachan,
- Guillaume Lettre,
- Joel Hirschhorn,
- Daniele Cusi,
- Iris M. Heid,
- Caroline Hayward,
- Katrin Männik,
- Jacques S. Beckmann,
- Ruth J. F. Loos,
- Dale R. Nyholt,
- Andres Metspalu,
- Johan G. Eriksson,
- Michael N. Weedon,
- Veikko Salomaa,
- Lude Franke,
- Alexandre Reymond,
- Timothy M. Frayling,
- Zoltán Kutalik
Affiliations
- Aurélien Macé
- Institute of Social and Preventive Medicine, Lausanne University Hospital
- Marcus A. Tuke
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Patrick Deelen
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Kati Kristiansson
- National Institute for Health and Welfare
- Hannele Mattsson
- National Institute for Health and Welfare
- Margit Nõukas
- Estonian Genome Center, University of Tartu
- Yadav Sapkota
- QIMR Berghofer Medical Research Institute
- Ursula Schick
- The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
- Eleonora Porcu
- Swiss Institute of Bioinformatics
- Sina Rüeger
- Institute of Social and Preventive Medicine, Lausanne University Hospital
- Aaron F. McDaid
- Institute of Social and Preventive Medicine, Lausanne University Hospital
- David Porteous
- Generation Scotland, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh
- Thomas W. Winkler
- Department of Genetic Epidemiology, University of Regensburg
- Erika Salvi
- Department of Health Sciences, University of Milano
- Nick Shrine
- Department of Health Sciences, University of Leicester
- Xueping Liu
- Department of Epidemiology Research, Statens Serum Institut
- Wei Q. Ang
- School of Women’s and Infants’ Health, The University of Western Australia
- Weihua Zhang
- Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London
- Mary F. Feitosa
- Department of Genetics, Washington University School of Medicine
- Cristina Venturini
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Peter J. van der Most
- Department of Epidemiology, University of Groningen, University Medical Center Groningen
- Anders Rosengren
- Research Institute of Biological Psychiatry, Mental Health Center Sct. Hans
- Andrew R. Wood
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Robin N. Beaumont
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Samuel E. Jones
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Katherine S. Ruth
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Hanieh Yaghootkar
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Jessica Tyrrell
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Aki S. Havulinna
- National Institute for Health and Welfare
- Harmen Boers
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Reedik Mägi
- Estonian Genome Center, University of Tartu
- Jennifer Kriebel
- Research Unit of Molecular Epidemiology, Helmholtz Zentrum Muenchen, German Research Center for Environmental Health
- Martina Müller-Nurasyid
- Institute of Genetic Epidemiology, Helmholtz Zentrum München—German Research Center for Environmental Health
- Markus Perola
- National Institute for Health and Welfare
- Markku Nieminen
- Heart and Lung Centre HUCH and Helsinki University
- Marja-Liisa Lokki
- Medicum, Helsinki University
- Mika Kähönen
- Department of Clinical Physiology, Tampere University Hospital
- Jorma S. Viikari
- Division of Medicine, Turku University Hospital
- Frank Geller
- Department of Epidemiology Research, Statens Serum Institut
- Jari Lahti
- Department of Psychology and Logopedics, Faculty of Medicine, University of Helsinki
- Aarno Palotie
- Institute for Molecular Medicine Finland, University of Helsinki
- Päivikki Koponen
- National Institute for Health and Welfare
- Annamari Lundqvist
- National Institute for Health and Welfare
- Harri Rissanen
- National Institute for Health and Welfare
- Erwin P. Bottinger
- The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
- Saima Afaq
- Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London
- Mary K. Wojczynski
- Department of Genetics, Washington University School of Medicine
- Petra Lenzini
- Department of Genetics, Washington University School of Medicine
- Ilja M. Nolte
- Department of Epidemiology, University of Groningen, University Medical Center Groningen
- Thomas Sparsø
- Research Institute of Biological Psychiatry, Mental Health Center Sct. Hans
- Nicole Schupf
- Taub Institute, College of Physicians and Surgeons, Columbia University
- Kaare Christensen
- The Danish Aging Research Center, Epidemiology, University of Southern Denmark
- Thomas T. Perls
- Section of Geriatrics, Department of Medicine, Boston University, Boston School of Medicine and Boston Medical Center
- Anne B. Newman
- Department of Epidemiology, University of Pittsburgh Graduate School of Public Health
- Thomas Werge
- Research Institute of Biological Psychiatry, Mental Health Center Sct. Hans
- Harold Snieder
- Department of Epidemiology, University of Groningen, University Medical Center Groningen
- Timothy D. Spector
- Department of Twin Research and Genetic Epidemiology, King’s College London
- John C. Chambers
- Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London
- Seppo Koskinen
- National Institute for Health and Welfare
- Mads Melbye
- Department of Epidemiology Research, Statens Serum Institut
- Olli T. Raitakari
- Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital
- Terho Lehtimäki
- Department of Clinical Chemistry, Fimlab Laboratories
- Martin D. Tobin
- Department of Health Sciences, University of Leicester
- Louise V. Wain
- Department of Health Sciences, University of Leicester
- Juha Sinisalo
- Heart and Lung Centre HUCH and Helsinki University
- Annette Peters
- Institute of Epidemiology II, Helmholtz Zentrum Muenchen, German Research Center for Environmental Health
- Thomas Meitinger
- Institute of Human Genetics, Helmholtz Zentrum München
- Nicholas G. Martin
- QIMR Berghofer Medical Research Institute
- Naomi R. Wray
- Queensland Brain Institute, University of Queensland
- Grant W. Montgomery
- QIMR Berghofer Medical Research Institute
- Sarah E. Medland
- QIMR Berghofer Medical Research Institute
- Morris A. Swertz
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Erkki Vartiainen
- National Institute for Health and Welfare
- Katja Borodulin
- National Institute for Health and Welfare
- Satu Männistö
- National Institute for Health and Welfare
- Anna Murray
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Murielle Bochud
- Institute of Social and Preventive Medicine, Lausanne University Hospital
- Sébastien Jacquemont
- Centre de recherche, Centre Hospitalier Universitaire Sainte Justine
- Fernando Rivadeneira
- Department of Epidemiology, Erasmus Medical Center
- Thomas F. Hansen
- Research Institute of Biological Psychiatry, Mental Health Center Sct. Hans
- Albertine J. Oldehinkel
- Department of Psychiatry, University of Groningen, University Medical Center Groningen
- Massimo Mangino
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Michael A. Province
- Department of Genetics, Washington University School of Medicine
- Panos Deloukas
- William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
- Jaspal S. Kooner
- Department of Cardiology, Ealing Hospital NHS Trust
- Rachel M. Freathy
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Craig Pennell
- School of Women’s and Infants’ Health, The University of Western Australia
- Bjarke Feenstra
- Department of Epidemiology Research, Statens Serum Institut
- David P. Strachan
- Population Health Research Institute, St. George’s, University of London
- Guillaume Lettre
- Montreal Heart Institute, Université de Montréal
- Joel Hirschhorn
- Broad Institute of MIT and Harvard
- Daniele Cusi
- Department of Health Sciences, University of Milano
- Iris M. Heid
- Department of Genetic Epidemiology, University of Regensburg
- Caroline Hayward
- Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
- Katrin Männik
- Estonian Genome Center, University of Tartu
- Jacques S. Beckmann
- Swiss Institute of Bioinformatics
- Ruth J. F. Loos
- The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
- Dale R. Nyholt
- QIMR Berghofer Medical Research Institute
- Andres Metspalu
- Estonian Genome Center, University of Tartu
- Johan G. Eriksson
- Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital
- Michael N. Weedon
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Veikko Salomaa
- National Institute for Health and Welfare
- Lude Franke
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Alexandre Reymond
- Center for Integrative Genomics, University of Lausanne
- Timothy M. Frayling
- Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
- Zoltán Kutalik
- Institute of Social and Preventive Medicine, Lausanne University Hospital
- DOI
- https://doi.org/10.1038/s41467-017-00556-x
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 11
Abstract
Individual SNPs have small effects on anthropometric traits, yet the impact of CNVs has remained largely unknown. Here, Kutalik and co-workers perform a large-scale genome-wide meta-analysis of structural variation and find rare CNVs associated with height, weight and BMI with large effect sizes.
