Large recurrent microdeletions associated with schizophrenia

Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P. H. Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E. Buizer-Voskamp, Thomas Hansen, Klaus D. Jakobsen, Pierandrea Muglia, Clyde Francks, Paul M. Matthews, Arnaldur Gylfason, Bjarni V. Halldorsson, Daniel Gudbjartsson, Thorgeir E. Thorgeirsson, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Bjornsson, Sigurborg Mattiasdottir, Thorarinn Blondal, Magnus Haraldsson, Brynja B. Magnusdottir, Ina Giegling, Hans-Jürgen Möller, Annette Hartmann, Kevin V. Shianna, Dongliang Ge, Anna C. Need, Caroline Crombie, Gillian Fraser, Nicholas Walker, Jouko Lonnqvist, Jaana Suvisaari, Annamarie Tuulio-Henriksson, Tiina Paunio, Timi Toulopoulou, Elvira Bramon, Marta Di Forti, Robin Murray, Mirella Ruggeri, Evangelos Vassos, Sarah Tosato, Muriel Walshe, Tao Li, Catalina Vasilescu, Thomas W. Mühleisen, August G. Wang, Henrik Ullum, Srdjan Djurovic, Ingrid Melle, Jes Olesen, Lambertus A. Kiemeney, Barbara Franke, Chiara Sabatti, Nelson B. Freimer, Jeffrey R. Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Ole A. Andreassen, Roel A. Ophoff, Alexander Georgi, Marcella Rietschel, Thomas Werge, Hannes Petursson, David B. Goldstein, Markus M. Nöthen, Leena Peltonen, David A. Collier, David St Clair () and Kari Stefansson ()
Additional contact information
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
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
Klaus D. Jakobsen: Research Institute of Biological Psychiatry, Mental Health Centre Sct. Hans Copenhagen University Hospital
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
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
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
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
Roel A. Ophoff: University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands
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
Leena Peltonen: National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00290 Helsinki, Finland
David A. Collier: Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College
David St Clair: University of Aberdeen, Royal Cornhill Hospital
Kari Stefansson: deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland

Nature, 2008, vol. 455, issue 7210, 232-236

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.

Date: 2008
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DOI: 10.1038/nature07229

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