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Link to original content: https://doi.org/10.1038/nature07239
Rare chromosomal deletions and duplications increase risk of schizophrenia | Nature
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Rare chromosomal deletions and duplications increase risk of schizophrenia

Nature volume 455, pages 237–241 (2008)Cite this article

Abstract

Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia2,3,4,5,6,7 and also in neurodevelopmental disorders8,9,10,11, but large-scale genome-wide surveys have not been performed. Here we report a genome-wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls, using high-density microarrays. For CNVs that were observed in less than 1% of the sample and were more than 100 kilobases in length, the total burden is increased 1.15-fold in patients with schizophrenia in comparison with controls. This effect was more pronounced for rarer, single-occurrence CNVs and for those that involved genes as opposed to those that did not. As expected, deletions were found within the region critical for velo-cardio-facial syndrome, which includes psychotic symptoms in 30% of patients12. Associations with schizophrenia were also found for large deletions on chromosome 15q13.3 and 1q21.1. These associations have not previously been reported, and they remained significant after genome-wide correction. Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci.

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Figure 1: Regions with excess large deletions in cases.

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Acknowledgements

We thank the patients and families who contributed their time and DNA to these studies, and also D. Altshuler and members of the Medical and Population Genetics group at the Broad Institute of Harvard and Massachusetts Institute of Technology for valuable discussion. The group at the Stanley Center for Psychiatric Research at the Broad Institute was supported by the Stanley Medical Research Institute (E.M.S.), the Sylvan C. Herman Foundation (E.M.S.), and MH071681 (P.S.). The Cardiff University group was supported by a Medical Research Council (UK) Programme grant and the National Institutes of Mental Health (USA) (CONTE: 2 P50 MH066392-05A1). The group at Karolinska Institutet was supported by the Swedish Council for Working Life and Social Research (FO 184/2000; 2001-2368). The Massachusetts General Hospital group was supported by the Stanley Medical Research Institute (P.S.), MH071681 (P.S.) and a Narsad Young Investigator Award (S.P.). The group at the Queensland Institute of Medical Research was supported by the Australian National Health and Medical Research Council. The Trinity College Dublin group was supported by Science Foundation Ireland, the Health Research Board (Ireland), the Stanley Medical Research Institute and the Wellcome Trust; Irish controls were supplied by J. McPartlin from the Trinity College Biobank. The work at the University of Aberdeen was partly funded by GlaxoSmithKline and Generation Scotland, Genetics Health Initiative. The University College London clinical and control samples were collected with support from the Neuroscience Research Charitable Trust, the Camden and Islington Mental Health and Social Care Trust, East London and City Mental Heath Trust, the West Berkshire NHS Trust, the West London Mental Health Trust, Oxfordshire and Buckinghamshire Mental Health Partnership NHS Trust, South Essex Partnership NHS Foundation Trust, Gloucestershire Partnership NHS Foundation Trust, Mersey Care NHS Trust, Hampshire Partnership NHS Trust and the North East London Mental Health Trust. The collection of the University of Edinburgh cohort was supported by grants from the Wellcome Trust, London, and the Chief Scientist Office of the Scottish Executive. The group at the University of North Carolina, Chapel Hill, was supported by MH074027, MH077139 and MH080403, the Sylvan C. Herman Foundation (P.F.S.) and the Stanley Medical Research Institute (P.F.S.) The group at the University of Southern California thanks the patients and their families for their collaboration, and acknowledges the support of the National Institutes of Mental Health and the Department of Veterans Affairs.

Author information

Author notes

  1. Lists of members and affiliations appear at the end of the paper.

  2. Washington VA Medical Center, Washington, DC 20422, USA.

  3. Department of Psychiatry, Georgetown University School of Medicine, Washington, DC 20057, USA.

  4. Department of Psychiatry, Virginia Commonwealth University, Richmond, VA 23298, USA.

Authors and Affiliations

  1. Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA.,

    Jennifer L. Stone, Douglas M. Ruderfer, Pamela Sklar, Shaun M. Purcell (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Pamela Sklar, Shaun M. Purcell (Leader), Shaun M. Purcell, Jennifer L. Stone, Pamela Sklar (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Shaun M. Purcell, Pamela Sklar, Shaun M. Purcell, Jennifer L. Stone, Douglas M. Ruderfer & Pamela Sklar

  2. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.,

    Jennifer L. Stone, Douglas M. Ruderfer, Pamela Sklar, Shaun M. Purcell (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Mark J. Daly, Pamela Sklar, Shaun M. Purcell (Leader), Shaun M. Purcell, Edward M. Scolnick, Jennifer L. Stone, Pamela Sklar (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Mark Daly, Shaun M. Purcell, Pamela Sklar, Shaun M. Purcell, Jennifer L. Stone, Kimberly Chambert, Douglas M. Ruderfer, Mark J. Daly, Edward M. Scolnick & Pamela Sklar

  3. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.,

    Jennifer L. Stone, Douglas M. Ruderfer, Pamela Sklar, Shaun M. Purcell (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Joshua Korn, Mark J. Daly, Pamela Sklar, Shaun M. Purcell (Leader), Shaun M. Purcell, Edward M. Scolnick, Jennifer L. Stone, Pamela Sklar (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Joshua Korn, Steve A. McCarroll, Mark Daly, Shaun M. Purcell, Pamela Sklar, Shaun M. Purcell, Jennifer L. Stone, Kimberly Chambert, Douglas M. Ruderfer, Joshua Korn, Steve A. McCarroll, Casey Gates, Stacey B. Gabriel, Scott Mahon, Kristen Ardlie, Mark J. Daly, Edward M. Scolnick & Pamela Sklar

  4. Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, Massachusetts 02114, USA.,

    Jennifer L. Stone, Douglas M. Ruderfer, Pamela Sklar, Shaun M. Purcell (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Joshua Korn, Mark J. Daly, Pamela Sklar, Shaun M. Purcell (Leader), Shaun M. Purcell, Jennifer L. Stone, Pamela Sklar (Leader), Jennifer L. Stone, Douglas M. Ruderfer, Joshua Korn, Steve A. McCarroll, Mark Daly, Shaun M. Purcell, Pamela Sklar, Shaun M. Purcell, Jennifer L. Stone, Douglas M. Ruderfer, Joshua Korn, Steve A. McCarroll, Mark J. Daly & Pamela Sklar

  5. Department of Psychological Medicine, School of Medicine, School of Medicine, Cardiff University, Cardiff C14 4XN, UK.,

    Michael C. O’Donovan, George K. Kirov, Nick J. Craddock, Michael J. Owen, George K. Kirov, Peter A. Holmans, Michael C. O’Donovan, Nick J. Craddock, George K. Kirov, Michael C. O’Donovan, Michael J. Owen, Michael C. O’Donovan, George K. Kirov, Nick J. Craddock, Peter A. Holmans, Nigel M. Williams, Lucy Georgieva, Ivan Nikolov, N. Norton, H. Williams & Michael J. Owen

  6. Department of Mental Health Sciences, Molecular Psychiatry Laboratory, University College London Medical School, Windeyer Institute of Medical Sciences, 46 Cleveland Street, London W1T 4JF, UK.,

    Hugh Gurling, Andrew McQuillin, Andrew McQuillin, Hugh Gurling, Andrew McQuillin, Andrew McQuillin, Khalid Choudhury, Susmita Datta, Jonathan Pimm, Vinay Puri, Robert Krasucki, Jacob Lawrence, Nicholas Bass & Hugh Gurling

  7. Division of Psychiatry, School of Molecular and Clinical Medicine, University of Edinburgh, Edinburgh EH10 5HF, UK.,

    Douglas H. R. Blackwood, Douglas H. R. Blackwood, Douglas H. R. Blackwood, Walter J. Muir, Kevin A. McGhee, Ben Pickard, Pat Malloy, Alan W. Maclean & Margaret Van Beck

  8. Department of Psychiatry and Institute of Molecular Medicine, Neuropsychiatric Genetics Research Group, Trinity College Dublin, Dublin 2, Ireland.,

    Aiden Corvin, Michael Gill, Derek W. Morris, Colm T. O’Dushlaine, Aiden Corvin, Michael Gill, Derek W. Morris, Colm T. O’Dushlaine, Elaine Kenny, Michael Gill & Aiden Corvin

  9. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.,

    Christina M. Hultman, Paul Lichtenstein, Christina M. Hultman, Paul Lichtenstein, Christina M. Hultman, Paul Lichtenstein & Emma F. Thelander

  10. Department of Neuroscience, Psychiatry, Ulleråker, Uppsala University, SE-750 17 Uppsala, Sweden.,

    Christina M. Hultman, Christina M. Hultman & Christina M. Hultman

  11. Center for Genomic Psychiatry, University of Southern California, Los Angeles, California 90033, USA.,

    Carlos N. Pato, Carlos N. Pato, Michele T. Pato, Helena Medeiros, Celia Carvalho, Ayman Fanous, David Conti, James A. Knowles & Carlos N. Pato

  12. Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK.,

    David St Clair, David St Clair, Soh Leh Kwan & David St Clair

  13. Departments of Genetics, Psychiatry, and Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA.,

    Patrick F. Sullivan, Patrick F. Sullivan, Patrick F. Sullivan & Patrick Sullivan

  14. Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland 4006, Australia.,

    Stuart Macgregor, Peter M. Visscher, Peter M. Visscher & Stuart Macgregor

  15. Department of Medical Genetics, University Hospital Maichin Dom, Sofia 1431, Bulgaria.,

    Draga Toncheva

  16. Department of Psychiatry, First Psychiatric Clinic, Alexander University Hospital, Sofia 1431, Bulgaria.,

    Vihra Milanova

  17. Molecular and Cellular Therapeutics and RCSI Research Institute, Royal College of Surgeons in Ireland, Dublin 2, Ireland.,

    John L. Waddington

  18. West Berkshire NHS Trust, 25 Erleigh Road, Reading RG3 5LR, UK.,

    Srinivasa Thirumalai

  19. West London Mental Health Trust, Hammersmith and Fulham Mental Health Unit and St Bernard’s Hospital, London W6 8RF, UK.,

    Digby Quested

  20. Queen Mary College, University of London and East London and City Mental Health Trust, Royal London Hospital, Whitechapel, London E1 1BB, UK.,

    David Curtis

  21. Department of Mental Health, University of Aberdeen, Aberdeen AB25 2ZD, UK.,

    Caroline Crombie & Gillian Fraser

  22. Ravenscraig Hospital, Inverkip Road, Greenock PA16 9HA, UK.,

    Nicholas Walker

  23. State University of New York – Upstate Medical University, Syracuse, New York 13210, USA.,

    Frank Middleton & Christopher Morley

  24. Department of Psychiatry, Sao Miguel, 9500-310 Azores, Portugal.,

    Carlos Paz Ferreira

  25. Department of Psychiatry, University of Coimbra, 3004-504 Coimbra, Portugal.,

    Antonio Macedo & M. Helena Azevedo

Consortia

The International Schizophrenia Consortium

  • Manuscript preparation

    • Jennifer L. Stone
    • , Michael C. O’Donovan
    • , Hugh Gurling
    • , George K. Kirov
    • , Douglas H. R. Blackwood
    • , Aiden Corvin
    • , Nick J. Craddock
    • , Michael Gill
    • , Christina M. Hultman
    • , Paul Lichtenstein
    • , Andrew McQuillin
    • , Carlos N. Pato
    • , Douglas M. Ruderfer
    • , Michael J. Owen
    • , David St Clair
    • , Patrick F. Sullivan
    • , Pamela Sklar
    •  & Shaun M. Purcell (Leader)

  • Data analysis

    • Jennifer L. Stone
    • , Douglas M. Ruderfer
    • , Joshua Korn
    • , George K. Kirov
    • , Stuart Macgregor
    • , Andrew McQuillin
    • , Derek W. Morris
    • , Colm T. O’Dushlaine
    • , Mark J. Daly
    • , Peter M. Visscher
    • , Peter A. Holmans
    • , Michael C. O’Donovan
    • , Patrick F. Sullivan
    • , Pamela Sklar
    •  & Shaun M. Purcell (Leader)

  • Management committee

    • Hugh Gurling
    • , Aiden Corvin
    • , Douglas H. R. Blackwood
    • , Nick J. Craddock
    • , Michael Gill
    • , Christina M. Hultman
    • , George K. Kirov
    • , Paul Lichtenstein
    • , Andrew McQuillin
    • , Michael C. O’Donovan
    • , Michael J. Owen
    • , Carlos N. Pato
    • , Shaun M. Purcell
    • , Edward M. Scolnick
    • , David St Clair
    • , Jennifer L. Stone
    • , Patrick F. Sullivan
    •  & Pamela Sklar (Leader)

  • Cardiff University

    • Michael C. O’Donovan
    • , George K. Kirov
    • , Nick J. Craddock
    • , Peter A. Holmans
    • , Nigel M. Williams
    • , Lucy Georgieva
    • , Ivan Nikolov
    • , N. Norton
    • , H. Williams
    • , Draga Toncheva
    • , Vihra Milanova
    •  & Michael J. Owen

  • Karolinska Institutet/University of North Carolina at Chapel Hill

    • Christina M. Hultman
    • , Paul Lichtenstein
    • , Emma F. Thelander
    •  & Patrick Sullivan

  • Trinity College Dublin

    • Derek W. Morris
    • , Colm T. O’Dushlaine
    • , Elaine Kenny
    • , John L. Waddington
    • , Michael Gill
    •  & Aiden Corvin

  • University College London

    • Andrew McQuillin
    • , Khalid Choudhury
    • , Susmita Datta
    • , Jonathan Pimm
    • , Srinivasa Thirumalai
    • , Vinay Puri
    • , Robert Krasucki
    • , Jacob Lawrence
    • , Digby Quested
    • , Nicholas Bass
    • , David Curtis
    •  & Hugh Gurling

  • University of Aberdeen

    • Caroline Crombie
    • , Gillian Fraser
    • , Soh Leh Kwan
    • , Nicholas Walker
    •  & David St Clair

  • University of Edinburgh

    • Douglas H. R. Blackwood
    • , Walter J. Muir
    • , Kevin A. McGhee
    • , Ben Pickard
    • , Pat Malloy
    • , Alan W. Maclean
    •  & Margaret Van Beck

  • Queensland Institute of Medical Research

    • Peter M. Visscher
    •  & Stuart Macgregor

  • University of Southern California

    • Michele T. Pato
    • , Helena Medeiros
    • , Frank Middleton
    • , Celia Carvalho
    • , Christopher Morley
    • , Ayman Fanous
    • , David Conti
    • , James A. Knowles
    • , Carlos Paz Ferreira
    • , Antonio Macedo
    • , M. Helena Azevedo
    •  & Carlos N. Pato

  • Massachusetts General Hospital

    • Jennifer L. Stone
    • , Douglas M. Ruderfer
    • , Joshua Korn
    • , Steve A. McCarroll
    • , Mark Daly
    • , Shaun M. Purcell
    •  & Pamela Sklar

  • Stanley Center for Psychiatric Research and Broad Institute of MIT and Harvard

    • Shaun M. Purcell
    • , Jennifer L. Stone
    • , Kimberly Chambert
    • , Douglas M. Ruderfer
    • , Joshua Korn
    • , Steve A. McCarroll
    • , Casey Gates
    • , Stacey B. Gabriel
    • , Scott Mahon
    • , Kristen Ardlie
    • , Mark J. Daly
    • , Edward M. Scolnick
    •  & Pamela Sklar

Corresponding authors

Correspondence to Pamela Sklar, Pamela Sklar, Pamela Sklar or Pamela Sklar.

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The International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237–241 (2008). https://doi.org/10.1038/nature07239

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