Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-01

AUTHORS

Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto, Madhusudan Gujral, William M Brandler, Dheeraj Malhotra, Zhouzhi Wang, Karin V Fuentes Fajarado, Michelle S Maile, Stephan Ripke, Ingrid Agartz, Margot Albus, Madeline Alexander, Farooq Amin, Joshua Atkins, Silviu A Bacanu, Richard A Belliveau, Sarah E Bergen, Marcelo Bertalan, Elizabeth Bevilacqua, Tim B Bigdeli, Donald W Black, Richard Bruggeman, Nancy G Buccola, Randy L Buckner, Brendan Bulik-Sullivan, William Byerley, Wiepke Cahn, Guiqing Cai, Murray J Cairns, Dominique Campion, Rita M Cantor, Vaughan J Carr, Noa Carrera, Stanley V Catts, Kimberley D Chambert, Wei Cheng, C Robert Cloninger, David Cohen, Paul Cormican, Nick Craddock, Benedicto Crespo-Facorro, James J Crowley, David Curtis, Michael Davidson, Kenneth L Davis, Franziska Degenhardt, Jurgen Del Favero, Lynn E DeLisi, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H Fanous, Kai-How Farh, Martilias S Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B Freimer, Joseph I Friedman, Andreas J Forstner, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Elliot S Gershon, Ina Giegling, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I Goldstein, Jacob Gratten, Lieuwe de Haan, Marian L Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M Hartmann, Frans A Henskens, Stefan Herms, Joel N Hirschhorn, Per Hoffmann, Andrea Hofman, Hailiang Huang, Masashi Ikeda, Inge Joa, Anna K Kähler, René S Kahn, Luba Kalaydjieva, Juha Karjalainen, David Kavanagh, Matthew C Keller, Brian J Kelly, James L Kennedy, Yunjung Kim, James A Knowles, Bettina Konte, Claudine Laurent, Phil Lee, S Hong Lee, Sophie E Legge, Bernard Lerer, Deborah L Levy, Kung-Yee Liang, Jeffrey Lieberman, Jouko Lönnqvist, Carmel M Loughland, Patrik K E Magnusson, Brion S Maher, Wolfgang Maier, Jacques Mallet, Manuel Mattheisen, Morten Mattingsdal, Robert W McCarley, Colm McDonald, Andrew M McIntosh, Sandra Meier, Carin J Meijer, Ingrid Melle, Raquelle I Mesholam-Gately, Andres Metspalu, Patricia T Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W Morris, Bertram Müller-Myhsok, Kieran C Murphy, Robin M Murray, Inez Myin-Germeys, Igor Nenadic, Deborah A Nertney, Gerald Nestadt, Kristin K Nicodemus, Laura Nisenbaum, Annelie Nordin, Eadbhard O'Callaghan, Colm O'Dushlaine, Sang-Yun Oh, Ann Olincy, Line Olsen, F Anthony O'Neill, Jim Van Os, Christos Pantelis, George N Papadimitriou, Elena Parkhomenko, Michele T Pato, Tiina Paunio, Psychosis Endophenotypes International Consortium, Diana O Perkins, Tune H Pers, Olli Pietiläinen, Jonathan Pimm, Andrew J Pocklington, John Powell, Alkes Price, Ann E Pulver, Shaun M Purcell, Digby Quested, Henrik B Rasmussen, Abraham Reichenberg, Mark A Reimers, Alexander L Richards, Joshua L Roffman, Panos Roussos, Douglas M Ruderfer, Veikko Salomaa, Alan R Sanders, Adam Savitz, Ulrich Schall, Thomas G Schulze, Sibylle G Schwab, Edward M Scolnick, Rodney J Scott, Larry J Seidman, Jianxin Shi, Jeremy M Silverman, Jordan W Smoller, Erik Söderman, Chris C A Spencer, Eli A Stahl, Eric Strengman, Jana Strohmaier, T Scott Stroup, Jaana Suvisaari, Dragan M Svrakic, Jin P Szatkiewicz, Srinivas Thirumalai, Paul A Tooney, Juha Veijola, Peter M Visscher, John Waddington, Dermot Walsh, Bradley T Webb, Mark Weiser, Dieter B Wildenauer, Nigel M Williams, Stephanie Williams, Stephanie H Witt, Aaron R Wolen, Brandon K Wormley, Naomi R Wray, Jing Qin Wu, Clement C Zai, Rolf Adolfsson, Ole A Andreassen, Douglas H R Blackwood, Elvira Bramon, Joseph D Buxbaum, Sven Cichon, David A Collier, Aiden Corvin, Mark J Daly, Ariel Darvasi, Enrico Domenici, Tõnu Esko, Pablo V Gejman, Michael Gill, Hugh Gurling, Christina M Hultman, Nakao Iwata, Assen V Jablensky, Erik G Jönsson, Kenneth S Kendler, George Kirov, Jo Knight, Douglas F Levinson, Qingqin S Li, Steven A McCarroll, Andrew McQuillin, Jennifer L Moran, Bryan J Mowry, Markus M Nöthen, Roel A Ophoff, Michael J Owen, Aarno Palotie, Carlos N Pato, Tracey L Petryshen, Danielle Posthuma, Marcella Rietschel, Brien P Riley, Dan Rujescu, Pamela Sklar, David St Clair, James T R Walters, Thomas Werge, Patrick F Sullivan, Michael C O'Donovan, Stephen W Scherer, Benjamin M Neale, Jonathan Sebat, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium

ABSTRACT

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination. More... »

PAGES

27-35

References to SciGraph publications

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    1

    VOLUME

    49

    Author Affiliations

  • Hospital for Sick Children
  • Broad Institute
  • University of California, San Diego
  • Cardiff University
  • Icahn School of Medicine at Mount Sinai
  • Roche (Switzerland)
  • Karolinska Institute
  • Stanford University
  • Atlanta VA Medical Center
  • Hunter Medical Research Institute
  • Virginia Commonwealth University
  • Lundbeck Foundation
  • University of Iowa
  • Louisiana State University Health Sciences Center New Orleans
  • Massachusetts General Hospital
  • University of California, San Francisco
  • University Medical Center Utrecht
  • University of Newcastle Australia
  • University of California Los Angeles
  • UNSW Australia
  • Schizophrenia Research Institute
  • University of North Carolina at Chapel Hill
  • Washington University in St. Louis
  • Assistance Publique -Hopitaux De Paris
  • Trinity College Dublin
  • Centro de Investigación Biomédica en Red de Salud Mental
  • University College London
  • Sheba Medical Center
  • University of Bonn
  • University of Antwerp
  • Harvard University
  • National and Kapodistrian University of Athens
  • University College Cork
  • Oslo University Hospital
  • National University of Ireland, Galway
  • NorthShore University HealthSystem
  • London School of Hygiene & Tropical Medicine
  • University of Regensburg
  • National Institute for Health and Welfare
  • University of Southern California
  • Heidelberg University
  • University of Colorado Anschutz Medical Campus
  • University of Chicago
  • Ludwig Maximilian University of Munich
  • Pitié-Salpêtrière Hospital
  • University of Queensland
  • Illumina (United States)
  • Martin Luther University Halle-Wittenberg
  • University of Basel
  • Boston Children's Hospital
  • Fujita Health University
  • Stavanger University Hospital
  • University of Western Australia
  • University of Colorado Boulder
  • University of Toronto
  • Hadassah Medical Center
  • McLean Hospital
  • Johns Hopkins University
  • Columbia University
  • Sørlandet Sykehus
  • University of Edinburgh
  • Beth Israel Deaconess Medical Center
  • University of Tartu
  • Medical University of Sofia
  • Eli Lilly (United Kingdom)
  • University of Liverpool
  • Royal College of Surgeons in Ireland
  • King's College London
  • Maastricht University Medical Centre
  • Jena University Hospital
  • Eli Lilly (United States)
  • Umeå University
  • University of California, Berkeley
  • Queen's University Belfast
  • Melbourne Health
  • Technical University of Denmark
  • University of Helsinki
  • University of Oxford
  • Janssen (United States)
  • University of Göttingen
  • University of Erlangen-Nuremberg
  • Hunter New England Health
  • National Cancer Institute
  • James J Peters VA Medical Center
  • Wellcome Centre for Human Genetics
  • Berkshire Healthcare NHS Foundation Trust
  • Oulu University Hospital
  • Health Research Board
  • Forschungszentrum Jülich
  • Hebrew University of Jerusalem
  • University of Trento
  • Erasmus University Medical Center
  • University of Aberdeen
  • University of Copenhagen
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3725

    DOI

    http://dx.doi.org/10.1038/ng.3725

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1030116398

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27869829


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