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Large recurrent microdeletions associated with schizophrenia

Author

Listed:
  • Hreinn Stefansson

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Dan Rujescu

    (Genetics Research Centre, Ludwig-Maximilians-University, Nußbaumstrasse 7, 80336 Munich, Germany)

  • Sven Cichon

    (Life & Brain Center, University of Bonn, Sigmund-Freud-Strasse 25, D-53127 Bonn, Germany
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany)

  • Olli P. H. Pietiläinen

    (National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00290 Helsinki, Finland)

  • Andres Ingason

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Stacy Steinberg

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Ragnheidur Fossdal

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Engilbert Sigurdsson

    (National University Hospital, Hringbraut, 101 Reykjavík, Iceland)

  • Thordur Sigmundsson

    (National University Hospital, Hringbraut, 101 Reykjavík, Iceland)

  • Jacobine E. Buizer-Voskamp

    (University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands)

  • Thomas Hansen

    (Research Institute of Biological Psychiatry, Mental Health Centre Sct. Hans Copenhagen University Hospital
    Centre for Pharmacogenomics, University of Copenhagen)

  • Klaus D. Jakobsen

    (Research Institute of Biological Psychiatry, Mental Health Centre Sct. Hans Copenhagen University Hospital
    Centre for Pharmacogenomics, University of Copenhagen)

  • Pierandrea Muglia

    (Medical Genetics, GlaxoSmithKline R&D, Via A. Fleming 4, 37135 Verona, Italy)

  • Clyde Francks

    (Medical Genetics, GlaxoSmithKline R&D, Via A. Fleming 4, 37135 Verona, Italy)

  • Paul M. Matthews

    (Clinical Imaging Centre, Clinical Pharmacology and Discovery Medicine, GlaxoSmithKline, Hammersmith Hospital, London W12 ONN, UK)

  • Arnaldur Gylfason

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Bjarni V. Halldorsson

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Daniel Gudbjartsson

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Thorgeir E. Thorgeirsson

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Asgeir Sigurdsson

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Adalbjorg Jonasdottir

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Aslaug Jonasdottir

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Asgeir Bjornsson

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Sigurborg Mattiasdottir

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Thorarinn Blondal

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Magnus Haraldsson

    (National University Hospital, Hringbraut, 101 Reykjavík, Iceland)

  • Brynja B. Magnusdottir

    (National University Hospital, Hringbraut, 101 Reykjavík, Iceland)

  • Ina Giegling

    (Genetics Research Centre, Ludwig-Maximilians-University, Nußbaumstrasse 7, 80336 Munich, Germany)

  • Hans-Jürgen Möller

    (Genetics Research Centre, Ludwig-Maximilians-University, Nußbaumstrasse 7, 80336 Munich, Germany)

  • Annette Hartmann

    (Genetics Research Centre, Ludwig-Maximilians-University, Nußbaumstrasse 7, 80336 Munich, Germany)

  • Kevin V. Shianna

    (Institute for Genome Sciences & Policy, Center for Population Genomics & Pharmacogenetics, 4011 GSRB II 103 Research Drive, Duke University, DUMC Box 3471, Durham, North Carolina 27708, USA)

  • Dongliang Ge

    (Institute for Genome Sciences & Policy, Center for Population Genomics & Pharmacogenetics, 4011 GSRB II 103 Research Drive, Duke University, DUMC Box 3471, Durham, North Carolina 27708, USA)

  • Anna C. Need

    (Institute for Genome Sciences & Policy, Center for Population Genomics & Pharmacogenetics, 4011 GSRB II 103 Research Drive, Duke University, DUMC Box 3471, Durham, North Carolina 27708, USA)

  • Caroline Crombie

    (University of Aberdeen, Royal Cornhill Hospital)

  • Gillian Fraser

    (University of Aberdeen, Royal Cornhill Hospital)

  • Nicholas Walker

    (Ravenscraig hospital, Inverkip Road, Greenock PA16 9HA, UK)

  • Jouko Lonnqvist

    (National Public Health Institute, Mannerheimintie 166, FIN-00300 Helsinki, Finland)

  • Jaana Suvisaari

    (National Public Health Institute, Mannerheimintie 166, FIN-00300 Helsinki, Finland)

  • Annamarie Tuulio-Henriksson

    (National Public Health Institute, Mannerheimintie 166, FIN-00300 Helsinki, Finland)

  • Tiina Paunio

    (National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00290 Helsinki, Finland
    National Public Health Institute, Mannerheimintie 166, FIN-00300 Helsinki, Finland)

  • Timi Toulopoulou

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College)

  • Elvira Bramon

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College)

  • Marta Di Forti

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College)

  • Robin Murray

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College)

  • Mirella Ruggeri

    (Section of Psychiatry and Clinical Psychology, University of Verona, Verona, 37134 Verona, Italy)

  • Evangelos Vassos

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College)

  • Sarah Tosato

    (Section of Psychiatry and Clinical Psychology, University of Verona, Verona, 37134 Verona, Italy)

  • Muriel Walshe

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College)

  • Tao Li

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College
    Psychiatric Laboratory, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, China)

  • Catalina Vasilescu

    (Life & Brain Center, University of Bonn, Sigmund-Freud-Strasse 25, D-53127 Bonn, Germany)

  • Thomas W. Mühleisen

    (Life & Brain Center, University of Bonn, Sigmund-Freud-Strasse 25, D-53127 Bonn, Germany)

  • August G. Wang

    (Copenhagen University Hospital)

  • Henrik Ullum

    (Mental Health Centre Amager, Copenhagen University Hospital)

  • Srdjan Djurovic

    (Institute of Psychiatry, University of Oslo, PO Box 1130, Blindern, N-0318 Oslo, Norway
    Ulleval University Hospital, Kirkeveien 166, N-0407 Oslo, Norway)

  • Ingrid Melle

    (Ulleval University Hospital, Kirkeveien 166, N-0407 Oslo, Norway)

  • Jes Olesen

    (57 Nordre Ringvej, Glostrup Hospital, Glostrup, DK-2600 Copenhagen, Denmark)

  • Lambertus A. Kiemeney

    (Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands)

  • Barbara Franke

    (Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands)

  • Chiara Sabatti

    (UCLA, 695 Charles Young Drive South, Los Angeles, California 90095, USA)

  • Nelson B. Freimer

    (UCLA Center for Neurobehavioral Genetics, Charles E. Young Drive South, Los Angeles, California 90024, USA)

  • Jeffrey R. Gulcher

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Unnur Thorsteinsdottir

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Augustine Kong

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland)

  • Ole A. Andreassen

    (Institute of Psychiatry, University of Oslo, PO Box 1130, Blindern, N-0318 Oslo, Norway
    Ulleval University Hospital, Kirkeveien 166, N-0407 Oslo, Norway)

  • Roel A. Ophoff

    (University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands
    UCLA Center for Neurobehavioral Genetics, Charles E. Young Drive South, Los Angeles, California 90024, USA)

  • Alexander Georgi

    (Central Institute of Mental Health, University of Heidelberg, J5, D-68159 Mannheim, Germany)

  • Marcella Rietschel

    (Central Institute of Mental Health, University of Heidelberg, J5, D-68159 Mannheim, Germany)

  • Thomas Werge

    (Research Institute of Biological Psychiatry, Mental Health Centre Sct. Hans Copenhagen University Hospital)

  • Hannes Petursson

    (National University Hospital, Hringbraut, 101 Reykjavík, Iceland)

  • David B. Goldstein

    (Institute for Genome Sciences & Policy, Center for Population Genomics & Pharmacogenetics, 4011 GSRB II 103 Research Drive, Duke University, DUMC Box 3471, Durham, North Carolina 27708, USA)

  • Markus M. Nöthen

    (Life & Brain Center, University of Bonn, Sigmund-Freud-Strasse 25, D-53127 Bonn, Germany
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany)

  • Leena Peltonen

    (National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00290 Helsinki, Finland
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA)

  • David A. Collier

    (Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College
    Psychiatric Laboratory, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, China)

  • David St Clair

    (University of Aberdeen, Royal Cornhill Hospital)

  • Kari Stefansson

    (deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland
    University of Iceland, School of Medicine, Sturlugata 8, 101 Reykjavik, Iceland)

Abstract

The genetics of schizophrenia The genetics of schizophrenia and other mental disorders are complex and poorly understood, and made even harder to study because reduced reproduction rates result in negative selection pressure on risk alleles. To date, some copy number variations have been linked to schizophrenia but the studies have been relatively small. Now two independent large-scale genome-wide studies of thousands of patients and controls by two international consortia confirm a previously identified locus but also reveal novel associations. In the first study, a collaboration between SGENE and partners, de novo (spontaneous) copy number variants are reported on chromosomes 1 and 15. In the second study, by the International Schizophrenia Consortium, deletions were also reported on these chromosomes, as was greater overall frequency of copy number variation in the genome.

Suggested Citation

  • Hreinn Stefansson & Dan Rujescu & Sven Cichon & Olli P. H. Pietiläinen & Andres Ingason & Stacy Steinberg & Ragnheidur Fossdal & Engilbert Sigurdsson & Thordur Sigmundsson & Jacobine E. Buizer-Voskamp, 2008. "Large recurrent microdeletions associated with schizophrenia," Nature, Nature, vol. 455(7210), pages 232-236, September.
    • Handle: RePEc:nat:nature:v:455:y:2008:i:7210:d:10.1038_nature07229
    DOI: 10.1038/nature07229
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    Cited by:

    1. Elaine T. Lim & Yingleong Chan & Pepper Dawes & Xiaoge Guo & Serkan Erdin & Derek J. C. Tai & Songlei Liu & Julia M. Reichert & Mannix J. Burns & Ying Kai Chan & Jessica J. Chiang & Katharina Meyer & , 2022. "Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    2. Vittoria Mariano & Alexandros K. Kanellopoulos & Giuseppe Aiello & Adrian C. Lo & Eric Legius & Tilmann Achsel & Claudia Bagni, 2023. "SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
    3. Andrew K MacLeod & Gail Davies & Antony Payton & Albert Tenesa & Sarah E Harris & David Liewald & Xiayi Ke & Michelle Luciano & Lorna M Lopez & Alan J Gow & Janie Corley & Paul Redmond & Geraldine McN, 2012. "Genetic Copy Number Variation and General Cognitive Ability," PLOS ONE, Public Library of Science, vol. 7(12), pages 1-9, December.
    4. Berk Mandiracioglu & Furkan Ozden & Gun Kaynar & Mehmet Alper Yilmaz & Can Alkan & A. Ercument Cicek, 2024. "ECOLE: Learning to call copy number variants on whole exome sequencing data," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
    5. Snaedis Kristmundsdottir & Hakon Jonsson & Marteinn T. Hardarson & Gunnar Palsson & Doruk Beyter & Hannes P. Eggertsson & Arnaldur Gylfason & Gardar Sveinbjornsson & Guillaume Holley & Olafur A. Stefa, 2023. "Sequence variants affecting the genome-wide rate of germline microsatellite mutations," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    6. Rituparna Sinha & Sandip Samaddar & Rajat K De, 2015. "CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data," PLOS ONE, Public Library of Science, vol. 10(8), pages 1-22, August.
    7. Yu H. Sun & Hongxiao Cui & Chi Song & Jiafei Teng Shen & Xiaoyu Zhuo & Ruoqiao Huiyi Wang & Xiaohui Yu & Rudo Ndamba & Qian Mu & Hanwen Gu & Duolin Wang & Gayathri Guru Murthy & Pidong Li & Fan Liang , 2023. "Amniotes co-opt intrinsic genetic instability to protect germ-line genome integrity," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    8. McEvoy, Brian P. & Visscher, Peter M., 2009. "Genetics of human height," Economics & Human Biology, Elsevier, vol. 7(3), pages 294-306, December.
    9. Peter K Hatemi & Enda Byrne & Rose McDermott, 2012. "Introduction: What is a ‘gene’ and why does it matter for political science?," Journal of Theoretical Politics, , vol. 24(3), pages 305-327, July.
    10. Soumya Raychaudhuri & Joshua M Korn & Steven A McCarroll & The International Schizophrenia Consortium & David Altshuler & Pamela Sklar & Shaun Purcell & Mark J Daly, 2010. "Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function," PLOS Genetics, Public Library of Science, vol. 6(9), pages 1-12, September.

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