Article | Published:

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

Nature Genetics volume 49, pages 2735 (2017) | Download Citation

  • An Erratum to this article was published on 30 March 2017
  • An Erratum to this article was published on 27 September 2017

This article has been updated

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.

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Change history

  • 05 December 2016

    In the version of this article initially published online, author Daniel P. Howrigan was not listed as having contributed equally to this work. The error has been corrected for the print, PDF and HTML versions of this article.

  • 11 July 2017

    In the version of this article initially published, the members of the CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium were listed as collaborators but should have appeared as authors. The error has been corrected in the HTML and PDF versions of the article.

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Acknowledgements

Core funding for the Psychiatric Genomics Consortium is from the US National Institute of Mental Health (NIMH, U01 MH094421). We thank T. Lehner, A. Addington and G. Senthil (NIMH). The work of the contributing groups was supported by numerous grants from governmental and charitable bodies as well as philanthropic donation. Details are provided in the Supplementary Note.

Author information

Author notes

    • Christian R Marshall
    • , Daniel P Howrigan
    •  & Daniele Merico

    These authors contributed equally to this work.

    • Michael C O'Donovan
    • , Stephen W Scherer
    • , Benjamin M Neale
    •  & Jonathan Sebat

    These authors jointly directed this work.

Affiliations

  1. Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

    • Christian R Marshall
    • , Daniele Merico
    • , Bhooma Thiruvahindrapuram
    • , Zhouzhi Wang
    •  & Stephen W Scherer
  2. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.

    • Daniel P Howrigan
    • , Stephan Ripke
    • , Brendan Bulik-Sullivan
    • , Kai-How Farh
    • , Menachem Fromer
    • , Jacqueline I Goldstein
    • , Hailiang Huang
    • , Phil Lee
    • , Mark J Daly
    •  & Benjamin M Neale
  3. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

    • Daniel P Howrigan
    • , Stephan Ripke
    • , Richard A Belliveau Jr
    • , Sarah E Bergen
    • , Elizabeth Bevilacqua
    • , Brendan Bulik-Sullivan
    • , Kimberley D Chambert
    • , Menachem Fromer
    • , Giulio Genovese
    • , Phil Lee
    • , Colm O'Dushlaine
    • , Edward M Scolnick
    • , Jordan W Smoller
    • , Mark J Daly
    • , Steven A McCarroll
    • , Jennifer L Moran
    • , Aarno Palotie
    • , Tracey L Petryshen
    •  & Benjamin M Neale
  4. Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

    • Wenting Wu
    • , Douglas S Greer
    • , Danny Antaki
    • , Aniket Shetty
    • , Madhusudan Gujral
    • , William M Brandler
    • , Dheeraj Malhotra
    • , Karin V Fuentes Fajarado
    • , Michelle S Maile
    •  & Jonathan Sebat
  5. Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.

    • Wenting Wu
    • , Douglas S Greer
    • , Danny Antaki
    • , Aniket Shetty
    • , Madhusudan Gujral
    • , William M Brandler
    • , Dheeraj Malhotra
    • , Karin V Fuentes Fajarado
    • , Michelle S Maile
    •  & Jonathan Sebat
  6. MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.

    • Peter A Holmans
    • , Noa Carrera
    • , Nick Craddock
    • , Valentina Escott-Price
    • , Lyudmila Georgieva
    • , Marian L Hamshere
    • , David Kavanagh
    • , Sophie E Legge
    • , Andrew J Pocklington
    • , Alexander L Richards
    • , Douglas M Ruderfer
    • , Nigel M Williams
    • , George Kirov
    • , Michael J Owen
    • , James T R Walters
    •  & Michael C O'Donovan
  7. National Centre for Mental Health, Cardiff University, Cardiff, UK.

    • Peter A Holmans
    • , Nick Craddock
    • , Alexander L Richards
    • , Michael J Owen
    •  & Michael C O'Donovan
  8. Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    • Dalila Pinto
    • , Guiqing Cai
    • , Kenneth L Davis
    • , Elodie Drapeau
    • , Joseph I Friedman
    • , Vahram Haroutunian
    • , Elena Parkhomenko
    • , Abraham Reichenberg
    • , Jeremy M Silverman
    •  & Joseph D Buxbaum
  9. Department of Genetics and Genomic Sciences, Seaver Autism Center, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    • Dalila Pinto
  10. Neuroscience Discovery and Translational Area, Pharma Research and Early Development, F. Hoffmann-La Roche, Ltd, Basel, Switzerland.

    • Dheeraj Malhotra
    •  & Enrico Domenici
  11. NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

    • Ingrid Agartz
    • , Srdjan Djurovic
    • , Morten Mattingsdal
    • , Ingrid Melle
    • , Ole A Andreassen
    •  & Erik G Jönsson
  12. Department of Psychiatry, Diakonhjemmet Hospital, Oslo, Norway.

    • Ingrid Agartz
  13. Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden.

    • Ingrid Agartz
    • , Erik Söderman
    •  & Erik G Jönsson
  14. State Mental Hospital, Haar, Germany.

    • Margot Albus
  15. Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.

    • Madeline Alexander
    • , Claudine Laurent
    •  & Douglas F Levinson
  16. Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, Georgia, USA.

    • Farooq Amin
  17. Department of Psychiatry and Behavioral Sciences, Atlanta Veterans Affairs Medical Center, Atlanta, Georgia, USA.

    • Farooq Amin
  18. School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia.

    • Joshua Atkins
    • , Murray J Cairns
    • , Rodney J Scott
    • , Paul A Tooney
    •  & Jing Qin Wu
  19. Hunter Medical Research Institute, New Lambton, New South Wales, Australia.

    • Joshua Atkins
  20. Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, Virginia, USA.

    • Silviu A Bacanu
    • , Tim B Bigdeli
    • , Mark A Reimers
    • , Bradley T Webb
    • , Aaron R Wolen
    • , Brandon K Wormley
    • , Kenneth S Kendler
    •  & Brien P Riley
  21. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

    • Sarah E Bergen
    • , Anna K Kähler
    • , Patrik K E Magnusson
    • , Christina M Hultman
    •  & Patrick F Sullivan
  22. Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Mental Health Services Copenhagen, Copenhagen, Denmark.

    • Marcelo Bertalan
    • , Thomas Hansen
    • , Line Olsen
    • , Henrik B Rasmussen
    •  & Thomas Werge
  23. Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.

    • Marcelo Bertalan
    • , Thomas Hansen
    • , Manuel Mattheisen
    • , Line Olsen
    • , Henrik B Rasmussen
    •  & Thomas Werge
  24. Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

    • Donald W Black
  25. Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

    • Richard Bruggeman
  26. School of Nursing, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA.

    • Nancy G Buccola
  27. Center for Brain Science, Harvard University, Cambridge, Massachusetts, USA.

    • Randy L Buckner
  28. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA.

    • Randy L Buckner
    •  & Joshua L Roffman
  29. Athinoula A. Martinos Center, Massachusetts General Hospital, Boston, Massachusetts, USA.

    • Randy L Buckner
    • , Joshua L Roffman
    •  & Tracey L Petryshen
  30. Department of Psychiatry, University of California at San Francisco, San Francisco, California, USA.

    • William Byerley
  31. Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.

    • Wiepke Cahn
    • , René S Kahn
    • , Eric Strengman
    •  & Roel A Ophoff
  32. Department of Human Genetics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    • Guiqing Cai
    •  & Joseph D Buxbaum
  33. Schizophrenia Research Institute, Sydney, New South Wales, Australia.

    • Murray J Cairns
    • , Vaughan J Carr
    • , Stanley V Catts
    • , Frans A Henskens
    • , Carmel M Loughland
    • , Patricia T Michie
    • , Christos Pantelis
    • , Ulrich Schall
    • , Rodney J Scott
    • , Paul A Tooney
    • , Jing Qin Wu
    •  & Assen V Jablensky
  34. Priority Centre for Translational Neuroscience and Mental Health, University of Newcastle, Newcastle, New South Wales, Australia.

    • Murray J Cairns
    • , Frans A Henskens
    • , Brian J Kelly
    • , Carmel M Loughland
    • , Ulrich Schall
    •  & Paul A Tooney
  35. Centre Hospitalier du Rouvray and INSERM U1079, Faculty of Medicine, Rouen, France.

    • Dominique Campion
  36. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

    • Rita M Cantor
    •  & Roel A Ophoff
  37. School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.

    • Vaughan J Carr
  38. Department of Psychiatry, Royal Brisbane and Women's Hospital, University of Queensland, Brisbane, Queensland, Australia.

    • Stanley V Catts
  39. Department of Computer Science, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

    • Wei Cheng
  40. Department of Psychiatry, Washington University, St. Louis, Missouri, USA.

    • C Robert Cloninger
    •  & Dragan M Svrakic
  41. Department of Child and Adolescent Psychiatry, Assistance Publique–Hospitaux de Paris, Pierre and Marie Curie Faculty of Medicine and Institute for Intelligent Systems and Robotics, Paris, France.

    • David Cohen
  42. Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.

    • Paul Cormican
    • , Gary Donohoe
    • , Derek W Morris
    • , Aiden Corvin
    •  & Michael Gill
  43. Instituto de Formación e Investigación Marqués de Valdecilla, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

    • Benedicto Crespo-Facorro
  44. Centro Investigación Biomédica en Red Salud Mental, Madrid, Spain.

    • Benedicto Crespo-Facorro
  45. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

    • James J Crowley
    • , Martilias S Farrell
    • , Paola Giusti-Rodríguez
    • , Yunjung Kim
    • , Jin P Szatkiewicz
    • , Stephanie Williams
    •  & Patrick F Sullivan
  46. Department of Psychological Medicine, Queen Mary University of London, London, UK.

    • David Curtis
  47. Molecular Psychiatry Laboratory, Division of Psychiatry, University College London, London, UK.

    • David Curtis
    • , Jonathan Pimm
    • , Hugh Gurling
    •  & Andrew McQuillin
  48. Department of Psychiatry, Sheba Medical Center, Tel Hashomer, Israel.

    • Michael Davidson
    •  & Mark Weiser
  49. Institute of Human Genetics, University of Bonn, Bonn, Germany.

    • Franziska Degenhardt
    • , Andreas J Forstner
    • , Stefan Herms
    • , Per Hoffmann
    • , Andrea Hofman
    • , Sven Cichon
    •  & Markus M Nöthen
  50. Department of Genomics, Life and Brain Center, Bonn, Germany.

    • Franziska Degenhardt
    • , Andreas J Forstner
    • , Stefan Herms
    • , Per Hoffmann
    • , Andrea Hofman
    • , Sven Cichon
    •  & Markus M Nöthen
  51. Applied Molecular Genomics Unit, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.

    • Jurgen Del Favero
  52. Virginia Boston Health Care System, Brockton, Massachusetts, USA.

    • Lynn E DeLisi
    •  & Robert W McCarley
  53. Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.

    • Lynn E DeLisi
    • , Deborah L Levy
    • , Robert W McCarley
    • , Raquelle I Mesholam-Gately
    • , Larry J Seidman
    •  & Tracey L Petryshen
  54. First Department of Psychiatry, University of Athens Medical School, Athens, Greece.

    • Dimitris Dikeos
    •  & George N Papadimitriou
  55. Department of Psychiatry, University College Cork, Cork, Ireland.

    • Timothy Dinan
  56. Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

    • Srdjan Djurovic
  57. Cognitive Genetics and Therapy Group, School of Psychology and Discipline of Biochemistry, National University of Ireland Galway, Galway, Ireland.

    • Gary Donohoe
    •  & Derek W Morris
  58. Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, Illinois, USA.

    • Jubao Duan
    • , Alan R Sanders
    •  & Pablo V Gejman
  59. Department of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, Illinois, USA.

    • Jubao Duan
    • , Elliot S Gershon
    • , Alan R Sanders
    •  & Pablo V Gejman
  60. Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.

    • Frank Dudbridge
  61. Department of Psychiatry, University of Regensburg, Regensburg, Germany.

    • Peter Eichhammer
  62. Folkhälsan Research Center and Biomedicum Helsinki, Helsinki, Finland.

    • Johan Eriksson
  63. National Institute for Health and Welfare, Helsinki, Finland.

    • Johan Eriksson
    •  & Veikko Salomaa
  64. Department of General Practice, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.

    • Johan Eriksson
  65. Translational Technologies and Bioinformatics, Pharma Research and Early Development, F. Hoffman-La Roche, Basel, Switzerland.

    • Laurent Essioux
  66. Mental Health Service Line, Washington Virginia Medical Center, Washington, DC, USA.

    • Ayman H Fanous
  67. Department of Psychiatry, Georgetown University, Washington, DC, USA.

    • Ayman H Fanous
  68. Department of Psychiatry, Virginia Commonwealth University, Richmond, Virginia, USA.

    • Ayman H Fanous
  69. Department of Psychiatry, Keck School of Medicine at the University of Southern California, Los Angeles, California, USA.

    • Ayman H Fanous
    • , James A Knowles
    • , Michele T Pato
    •  & Carlos N Pato
  70. Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.

    • Josef Frank
    • , Sandra Meier
    • , Thomas G Schulze
    • , Jana Strohmaier
    • , Stephanie H Witt
    •  & Marcella Rietschel
  71. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

    • Lude Franke
    •  & Juha Karjalainen
  72. Department of Psychiatry, University of Colorado Denver, Aurora, Colorado, USA.

    • Robert Freedman
    •  & Ann Olincy
  73. Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.

    • Nelson B Freimer
    •  & Roel A Ophoff
  74. Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    • Menachem Fromer
    • , Shaun M Purcell
    • , Panos Roussos
    • , Douglas M Ruderfer
    • , Eli A Stahl
    •  & Pamela Sklar
  75. Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.

    • Menachem Fromer
    • , Phil Lee
    • , Jordan W Smoller
    • , Aarno Palotie
    •  & Benjamin M Neale
  76. Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.

    • Elliot S Gershon
  77. Department of Psychiatry, University of Halle, Halle, Germany.

    • Ina Giegling
    • , Annette M Hartmann
    • , Bettina Konte
    •  & Dan Rujescu
  78. Department of Psychiatry, University of Munich, Munich, Germany.

    • Ina Giegling
    •  & Dan Rujescu
  79. Departments of Psychiatry, and Human and Molecular Genetics, INSERM, Institut de Myologie, Hôpital de la Pitiè-Salpêtrière, Paris, France.

    • Stephanie Godard
  80. Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

    • Jacqueline I Goldstein
    • , Joel N Hirschhorn
    • , Hailiang Huang
    • , Tune H Pers
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  81. Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.

    • Jacob Gratten
    • , S Hong Lee
    • , Peter M Visscher
    • , Naomi R Wray
    •  & Bryan J Mowry
  82. Department of Psychiatry, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.

    • Lieuwe de Haan
    •  & Carin J Meijer
  83. Illumina, Inc., La Jolla, California, USA.

    • Mark Hansen
  84. J.J. Peters Virginia Medical Center, Bronx, New York, USA.

    • Vahram Haroutunian
  85. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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    •  & Pamela Sklar
  86. School of Electrical Engineering and Computer Science, University of Newcastle, Newcastle, New South Wales, Australia.

    • Frans A Henskens
  87. Division of Medical Genetics, Department of Biomedicine, University of Basel, Basel, Switzerland.

    • Stefan Herms
    • , Per Hoffmann
    •  & Sven Cichon
  88. Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

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  89. Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, Massachusetts, USA.

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  90. Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan.

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    •  & Nakao Iwata
  91. Regional Centre for Clinical Research in Psychosis, Department of Psychiatry, Stavanger University Hospital, Stavanger, Norway.

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  92. Centre for Medical Research, University of Western Australia, Perth, Western Australia, Australia.

    • Luba Kalaydjieva
  93. Perkins Institute for Medical Research, University of Western Australia, Perth, Western Australia, Australia.

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  94. Department of Psychology, University of Colorado Boulder, Boulder, Colorado, USA.

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    • Deborah L Levy
  102. Department of Biostatistics, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA.

    • Kung-Yee Liang
  103. Department of Psychiatry, Columbia University, New York, New York, USA.

    • Jeffrey Lieberman
    •  & T Scott Stroup
  104. Department of Mental Health and Substance Abuse Services, National Institute for Health and Welfare, Helsinki, Finland.

    • Jouko Lönnqvist
    •  & Jaana Suvisaari
  105. Department of Mental Health, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.

    • Brion S Maher
  106. Department of Psychiatry, University of Bonn, Bonn, Germany.

    • Wolfgang Maier
  107. CNRS, Laboratoire de Génétique Moléculaire de la Neurotransmission et des Processus Neurodégénératifs, Hôpital de la Pitié-Salpêtrière, Paris, France.

    • Jacques Mallet
  108. Department of Biomedicine, Aarhus University, Aarhus, Denmark.

    • Manuel Mattheisen
  109. Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.

    • Manuel Mattheisen
  110. Department of Genomics Mathematics, University of Bonn, Bonn, Germany.

    • Manuel Mattheisen
  111. Research Unit, Sørlandet Hospital, Kristiansand, Norway.

    • Morten Mattingsdal
  112. Department of Psychiatry, National University of Ireland Galway, Galway, Ireland.

    • Colm McDonald
  113. Division of Psychiatry, University of Edinburgh, Edinburgh, UK.

    • Andrew M McIntosh
    •  & Douglas H R Blackwood
  114. Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.

    • Andrew M McIntosh
  115. Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.

    • Ingrid Melle
    •  & Ole A Andreassen
  116. Massachusetts Mental Health Center Public Psychiatry Division of the Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

    • Raquelle I Mesholam-Gately
    •  & Larry J Seidman
  117. Estonian Genome Center, University of Tartu, Tartu, Estonia.

    • Andres Metspalu
    • , Lili Milani
    •  & Tõnu Esko
  118. School of Psychology, University of Newcastle, Newcastle, New South Wales, Australia.

    • Patricia T Michie
  119. First Psychiatric Clinic, Medical University, Sofia, Bulgaria.

    • Vihra Milanova
  120. Eli Lilly and Company, Ltd., Windlesham, UK.

    • Younes Mokrab
    •  & David A Collier
  121. Max Planck Institute of Psychiatry, Munich, Germany.

    • Bertram Müller-Myhsok
  122. Institute of Translational Medicine, University of Liverpool, Liverpool, UK.

    • Bertram Müller-Myhsok
  123. Cluster for Systems Neurology (SyNergy), Munich, Germany.

    • Bertram Müller-Myhsok
  124. Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland.

    • Kieran C Murphy
  125. Institute of Psychiatry, King's College London, London, UK.

    • Robin M Murray
    •  & John Powell
  126. Maastricht University Medical Centre, South Limburg Mental Health Research and Teaching Network, EURON, Maastricht, the Netherlands.

    • Inez Myin-Germeys
    •  & Jim Van Os
  127. Department of Psychiatry and Psychotherapy, Jena University Hospital, Jena, Germany.

    • Igor Nenadic
  128. Queensland Centre for Mental Health Research, University of Queensland, Brisbane, Queensland, Australia.

    • Deborah A Nertney
    •  & Bryan J Mowry
  129. Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    • Gerald Nestadt
    •  & Ann E Pulver
  130. Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.

    • Kristin K Nicodemus
  131. Eli Lilly and Company, Lilly Corporate Center, Indianapolis, Indiana, USA.

    • Laura Nisenbaum
  132. Department of Clinical Sciences, Psychiatry, Umeå University, Umeå, Sweden.

    • Annelie Nordin
    •  & Rolf Adolfsson
  133. DETECT Early Intervention Service for Psychosis, Blackrock, Ireland.

    • Eadbhard O'Callaghan
  134. Lawrence Berkeley National Laboratory, University of California at Berkeley, Berkeley, California, USA.

    • Sang-Yun Oh
  135. Centre for Public Health, Institute of Clinical Sciences, Queen's University Belfast, Belfast, UK.

    • F Anthony O'Neill
  136. Institute of Psychiatry, King's College London, London, UK.

    • Jim Van Os
  137. Melbourne Neuropsychiatry Centre, University of Melbourne and Melbourne Health, Melbourne, Victoria, Australia.

    • Christos Pantelis
  138. Public Health Genomics Unit, National Institute for Health and Welfare, Helsinki, Finland.

    • Tiina Paunio
    •  & Olli Pietiläinen
  139. Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

    • Diana O Perkins
    •  & Patrick F Sullivan
  140. Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Denmark.

    • Tune H Pers
  141. Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland.

    • Olli Pietiläinen
    •  & Aarno Palotie
  142. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.

    • Alkes Price
  143. Department of Psychiatry, University of Oxford, Oxford, UK.

    • Digby Quested
  144. Institute for Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    • Panos Roussos
    •  & Pamela Sklar
  145. Neuroscience Therapeutic Area, Janssen Research and Development, Raritan, New Jersey, USA.

    • Adam Savitz
    •  & Qingqin S Li
  146. Department of Psychiatry and Psychotherapy, University of Göttingen, Göttingen, Germany.

    • Thomas G Schulze
  147. Psychiatry and Psychotherapy Clinic, University of Erlangen, Erlangen, Germany.

    • Sibylle G Schwab
  148. Hunter New England Health Service, Newcastle, New South Wales, Australia.

    • Rodney J Scott
  149. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.

    • Jianxin Shi
  150. Research and Development, Bronx Veterans Affairs Medical Center, New York, New York, USA.

    • Jeremy M Silverman
  151. Wellcome Trust Centre for Human Genetics, Oxford, UK.

    • Chris C A Spencer
  152. Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.

    • Eric Strengman
  153. Berkshire Healthcare NHS Foundation Trust, Bracknell, UK.

    • Srinivas Thirumalai
  154. Department of Psychiatry, University of Oulu, Oulu, Finland.

    • Juha Veijola
  155. Department of Psychiatry, University Hospital of Oulu, Oulu, Finland.

    • Juha Veijola
  156. Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland.

    • John Waddington
  157. Health Research Board, Dublin, Ireland.

    • Dermot Walsh
  158. School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia.

    • Dieter B Wildenauer
    •  & Assen V Jablensky
  159. Division of Psychiatry, University College London, London, UK.

    • Elvira Bramon
  160. Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    • Joseph D Buxbaum
  161. Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Juelich, Germany.

    • Sven Cichon
  162. Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK.

    • David A Collier
  163. Department of Genetics, Hebrew University of Jerusalem, Jerusalem, Israel.

    • Ariel Darvasi
  164. Centre for Integrative Biology, University of Trento, Trento, Italy.

    • Enrico Domenici
  165. Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia.

    • Assen V Jablensky
  166. Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

    • Tracey L Petryshen
  167. Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, Amsterdam, the Netherlands.

    • Danielle Posthuma
  168. Department of Complex Trait Genetics, Neuroscience Campus Amsterdam, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.

    • Danielle Posthuma
  169. Department of Child and Adolescent Psychiatry, Erasmus University Medical Centre, Rotterdam, the Netherlands.

    • Danielle Posthuma
  170. Institute of Medical Sciences, University of Aberdeen, Aberdeen, UK.

    • David St Clair
  171. Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

    • Thomas Werge
  172. Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.

    • Stephen W Scherer
  173. Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, California, USA.

    • Jonathan Sebat

Consortia

  1. Psychosis Endophenotypes International Consortium

    A list of members and affiliations appears in the Supplementary Note

  2. CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium

Authors

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Contributions

Management of the study, core analyses and content of the manuscript was the responsibility of the CNV Analysis Group, chaired by J. Sebat and jointly supervised by S.W.S. and B.M.N. together with the Schizophrenia Working Group, chaired by M.C.O'D. Core analyses were carried out by D.P.H., D. Merico, and C.R.M. Data Processing pipeline was implemented by C.R.M., B.T., W.W., D.S.G., M. Gujral, A. Shetty, and W.B. The A custom PGC CNV browser was developed by C.R.M., D.P.H. and B.T. Additional analyses and interpretations were contributed by W.W., D.A. and P.A.H. The individual studies or consortia contributing to the CNV meta-analysis were led by R.A., O.A.A., D.H.R.B., E. Bramon, J.D.B., A.C., D.A.C., S.C., A.D., E. Domenici, T.E., P.V.G., M.G., H.G., C.M.H., N.I., A.V.J., E.G.J., K.S.K., G.K., J. Knight, D.F.L., Q.S.L., J. Liu, S.A.M., A. McQuillin, J.L.M., B.J.M., M.M.N., M.C.O'D., R.A.O., M.J.O., A. Palotie, C.N.P., T.L.P., M.R., B.P.R., D.R., P. Sklar, D.S.C., P.F.S., J.T.R.W. and T.W. The remaining authors contributed to the recruitment, genotyping, or data processing for the contributing components of the meta-analysis. J. Sebat, B.M.N., M.C.O'D., C.R.M., D.P.H., and D. Merico drafted the manuscript, which was shaped by the management group. All other authors saw, had the opportunity to comment on and approved the final draft.

Competing interests

J. Sebat is a co-inventor on patents granted (8554488) and pending (20140171371) on genetic methods for the diagnosis of psychiatric disorders. Several of the authors are employees of the following pharmaceutical companies: F. Hoffman-La Roche (D. Malhotra, L.E.), Eli Lilly (D.A.C., Y.M., L.N.) and Janssen (A. Savitz, Q.S.L.). None of these companies influenced the design of the study, the interpretation of the data or the amount of data reported or financially profit by publication of the results, which are precompetitive.

Corresponding author

Correspondence to Jonathan Sebat.

Supplementary information

PDF files

  1. 1.

    Supplementary Text and Figures

    Supplementary Figures 1–9, Supplementary Tables 1, 4, 6 and 7 and Supplementary Note

Excel files

  1. 1.

    Supplementary Table 2

    Summary of data sets and quality control

  2. 2.

    Supplementary Table 3

    Summary of gene sets

  3. 3.

    Supplementary Table 5

    Summary of digital droplet PCR results

About this article

Publication history

Received

Accepted

Published

DOI

https://doi.org/10.1038/ng.3725

Further reading