Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive l...
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| Published in | Nature genetics Vol. 49; no. 1; pp. 27 - 35 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.01.2017
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
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| Abstract | The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.
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. |
|---|---|
| AbstractList | The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.
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. 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 ), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10 ). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10 ) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10 ). 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. 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. 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 (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 non-allelic homologous recombination. Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genomewide 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^sup -15^), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10^sup -6^). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10^sup -11^) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10^sup -5^). Genome-wide significant evidence was obtained for eight loci, including 1 q21.1,2p16.3 (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. 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 x 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 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. 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 x 10[sup.-15]), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10[sup.-6]). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10[sup.-11]) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 10[sup.-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. |
| Audience | Academic |
| Author | Meier, Sandra Duan, Jubao Konte, Bettina Levy, Deborah L Strohmaier, Jana Holmans, Peter A Buxbaum, Joseph D Moran, Jennifer L Freimer, Nelson B Dikeos, Dimitris Adolfsson, Rolf Gurling, Hugh Myin-Germeys, Inez Catts, Stanley V St Clair, David Mallet, Jacques Jablensky, Assen V Herms, Stefan Mesholam-Gately, Raquelle I Oh, Sang-Yun Rasmussen, Henrik B Wray, Naomi R Nicodemus, Kristin K Mattheisen, Manuel Savitz, Adam Albus, Margot Maher, Brion S Paunio, Tiina Tooney, Paul A Howrigan, Daniel P Sullivan, Patrick F Degenhardt, Franziska Chambert, Kimberley D Blackwood, Douglas H R Escott-Price, Valentina Weiser, Mark Waddington, John Cloninger, C Robert Sklar, Pamela Neale, Benjamin M Davidson, Michael Veijola, Juha Giusti-Rodríguez, Paola Purcell, Shaun M Hansen, Mark Michie, Patricia T Scolnick, Edward M Andreassen, Ole A Price, Alkes Collier, David A Gratten, Jacob Henskens, Frans A Maier, Wolfgang McDonald, Colm Joa, Inge Strengman, Eric Bruggeman, Richard Wolen, Aaron R Magnusson, Patrik K E Kendler, Kenneth S Lee, Phil Freedman, Robert Morris, |
| AuthorAffiliation | 18 School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan NSW 2308, Australia 44 Centro Investigación Biomédica en Red Salud Mental, Madrid, Spain 158 School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Perth, WA 6009, Australia 128 Queensland Centre for Mental Health Research, University of Queensland, Brisbane QLD 4076, Australia 116 Massachusetts Mental Health Center Public Psychiatry Division of the Beth Israel Deaconess Medical Center, Boston, Massachusetts 02114, USA 7 National Centre for Mental Health, Cardiff University, Cardiff, CF24 4HQ, UK 92 Centre for Medical Research, The University of Western Australia, Perth, WA 6009, Australia 127 Department of Psychiatry and Psychotherapy, Jena University Hospital, 07743 Jena, Germany 106 Department of Psychiatry, University of Bonn, D-53127 Bonn, Germany 69 Department of Psychiatry, Keck School of Medicine at University of Southern California, Los Angeles, California 90033, USA 90 Depar |
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Hoffmann-La Roche Ltd, CH-4070 Basel, Switzerland – name: 151 Wellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UK – name: 154 Department of Psychiatry, University of Oulu, P.O. BOX 5000, 90014, Finland – name: 38 Royal Brisbane and Women’s Hospital, University of Queensland, Brisbane QLD 4072, Australia – name: 18 School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan NSW 2308, Australia – name: 126 Maastricht University Medical Centre, South Limburg Mental Health Research and Teaching Network, EURON, 6229 HX Maastricht, The Netherlands – name: 62 Folkhälsan Research Center, Helsinki, Finland, Biomedicum Helsinki 1, Haartmaninkatu 8, FI-00290, Helsinki, Finland – name: 141 Institute for Molecular Medicine Finland, FIMM, University of Helsinki, P.O. 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Martinos Center, Massachusetts General Hospital, Boston, Massachusetts 02129, USA – name: 128 Queensland Centre for Mental Health Research, University of Queensland, Brisbane QLD 4076, Australia – name: 81 Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia – name: 125 King’s College London, London SE5 8AF, UK – name: 169 Department of Child and Adolescent Psychiatry, Erasmus University Medical Centre, Rotterdam 3000, The Netherlands – name: 13 Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, SE-17176 Stockholm, Sweden – name: 139 Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina 27599-7160, USA – name: 19 Hunter Medical Research Institute, New Lambton, New South Wales, Australia – name: 166 Center for Human Genetic Research and Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA – name: 145 Neuroscience Therapeutic Area, Janssen Research and Development, Raritan, New Jersey 08869, USA – name: 27 Center for Brain Science, Harvard University, Cambridge, Massachusetts 02138, USA – name: 65 Translational Technologies and Bioinformatics, Pharma Research and Early Development, F.Hoffman-La Roche, CH-4070 Basel, Switzerland – name: 40 Department of Psychiatry, Washington University, St. Louis, Missouri 63110, USA – name: 61 Department of Psychiatry, University of Regensburg, 93053 Regensburg, Germany – name: 153 Berkshire Healthcare NHS Foundation Trust, Bracknell RG12 1BQ, UK – name: 100 Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel – name: 84 J.J. 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Cork, Ireland – name: 46 Department of Psychological Medicine, Queen Mary University of London, London E1 1BB, UK – name: 161 Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, 52428 Juelich, Germany – name: 73 Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90095, USA – name: 118 School of Psychology, University of Newcastle, Newcastle NSW 2308, Australia – name: 7 National Centre for Mental Health, Cardiff University, Cardiff, CF24 4HQ, UK – name: 54 First Department of Psychiatry, University of Athens Medical School, Athens 11528, Greece – name: 88 Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA – name: 9 Department of Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA – name: 91 Regional Centre for Clinical Research in Psychosis, Department of Psychiatry, Stavanger University Hospital, 4011 Stavanger, Norway – name: 90 Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, 470-1192, Japan – name: 28 Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA – name: 72 Department of Psychiatry, University of Colorado Denver, Aurora, Colorado 80045, USA – name: 96 Department of Psychiatry, University of Toronto, Toronto, Ontario, M5T 1R8, Canada – name: 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, 75013, France – name: 3 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA – name: 70 Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Heidelberg, D-68159 Mannheim, Germany – name: 150 Research and Development, Bronx Veterans Affairs Medical Center, New York, New York 10468, USA – name: 17 Department of Psychiatry and Behavioral Sciences, Atlanta Veterans Affairs Medical Center, Atlanta, Georgia 30033, USA – name: 66 Mental Health Service Line, Washington VA Medical Center, Washington DC 20422, USA – name: 52 VA Boston Health Care System, Brockton, Massachusetts 02301, USA – name: 80 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA – name: 15 Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California 94305, USA – name: 99 Department of Child and Adolescent Psychiatry, Pierre and Marie Curie Faculty of Medicine, Paris 75013, France – name: 107 Centre National de la Recherche Scientifique, Laboratoire de Génétique Moléculaire de la Neurotransmission et des Processus Neurodégénératifs, Hôpital de la Pitié Salpêtrière, 75013, Paris, France – name: 93 The Perkins Institute for Medical Research, The University of Western Australia, Perth, WA 6009, Australia – name: 26 School of Nursing, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA – name: 135 Centre for Public Health, Institute of Clinical Sciences, Queen’s University Belfast, Belfast BT12 6AB, UK – name: 163 Department of Genetics, The Hebrew University of Jerusalem, 91905 Jerusalem, Israel – name: 113 Division of Psychiatry, University of Edinburgh, Edinburgh EH16 4SB, UK – name: 64 Department of General Practice, Helsinki University Central Hospital, University of Helsinki P.O. 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Institute of Clinical Medicine, University of Oslo, Research Unit, Sørlandet Hospital – sequence: 128 givenname: Colm surname: McDonald fullname: McDonald, Colm organization: Department of Psychiatry, National University of Ireland Galway – sequence: 134 givenname: Andres surname: Metspalu fullname: Metspalu, Andres organization: Estonian Genome Center, University of Tartu – sequence: 137 givenname: Vihra surname: Milanova fullname: Milanova, Vihra organization: First Psychiatric Clinic, Medical University – sequence: 139 givenname: Derek W surname: Morris fullname: Morris, Derek W organization: Department of Psychiatry, Neuropsychiatric Genetics Research Group, Trinity College Dublin, Cognitive Genetics and Therapy Group, School of Psychology and Discipline of Biochemistry, National University of Ireland Galway – sequence: 142 givenname: Robin M surname: Murray fullname: Murray, Robin M organization: Institute of Psychiatry, King's College London – sequence: 146 givenname: Gerald surname: Nestadt fullname: Nestadt, Gerald organization: Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine – sequence: 147 givenname: Kristin K surname: Nicodemus fullname: Nicodemus, Kristin K organization: Department of Psychiatry, Trinity College Dublin – sequence: 149 givenname: Annelie surname: Nordin fullname: Nordin, Annelie organization: Department of Clinical Sciences, Psychiatry, Umeå University – sequence: 152 givenname: Sang-Yun surname: Oh fullname: Oh, Sang-Yun organization: Lawrence Berkeley National Laboratory, University of California at Berkeley – sequence: 154 givenname: Line surname: Olsen fullname: Olsen, Line organization: Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Mental Health Services Copenhagen, Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH – sequence: 156 givenname: Jim surname: Van Os fullname: Van Os, Jim organization: Maastricht University Medical Centre, South Limburg Mental Health Research and Teaching Network, EURON, Institute of Psychiatry, King's College London – sequence: 157 givenname: Christos surname: Pantelis fullname: Pantelis, Christos organization: Schizophrenia Research Institute, Melbourne Neuropsychiatry Centre, University of Melbourne and Melbourne Health – sequence: 164 givenname: Tune H surname: Pers fullname: Pers, Tune H organization: Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark – sequence: 168 givenname: John surname: Powell fullname: Powell, John organization: Institute of Psychiatry, King's College London – sequence: 169 givenname: Alkes surname: Price fullname: Price, Alkes organization: Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Department of Epidemiology, Harvard School of Public Health – sequence: 170 givenname: Ann E surname: Pulver fullname: Pulver, Ann E organization: Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine – sequence: 171 givenname: Shaun M surname: Purcell fullname: Purcell, Shaun M organization: Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai – sequence: 173 givenname: Henrik B surname: Rasmussen fullname: Rasmussen, Henrik B organization: Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Mental Health Services Copenhagen, Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH – sequence: 176 givenname: Alexander L surname: Richards fullname: Richards, Alexander L organization: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, National Centre for Mental Health, Cardiff University – sequence: 178 givenname: Panos surname: Roussos fullname: Roussos, Panos organization: Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, Institute for Multiscale Biology, Icahn School of Medicine at Mount Sinai – sequence: 183 givenname: Ulrich surname: Schall fullname: Schall, Ulrich organization: Schizophrenia Research Institute, Priority Centre for Translational Neuroscience and Mental Health, University of Newcastle – sequence: 185 givenname: Sibylle G surname: Schwab fullname: Schwab, Sibylle G organization: Psychiatry and Psychotherapy Clinic, University of Erlangen – sequence: 191 givenname: Jordan W surname: Smoller fullname: Smoller, Jordan W organization: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital – sequence: 193 givenname: Chris C A surname: Spencer fullname: Spencer, Chris C A organization: Wellcome Trust Centre for Human Genetics – sequence: 194 givenname: Eli A surname: Stahl fullname: Stahl, Eli A organization: Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, Medical and Population Genetics Program, Broad Institute of MIT and Harvard – sequence: 197 givenname: T Scott surname: Stroup fullname: Stroup, T Scott organization: Department of Psychiatry, Columbia University – sequence: 198 givenname: Jaana surname: Suvisaari fullname: Suvisaari, Jaana organization: Department of Mental Health and Substance Abuse Services, National Institute for Health and Welfare – sequence: 199 givenname: Dragan M surname: Svrakic fullname: Svrakic, Dragan M organization: Department of Psychiatry, Washington University – sequence: 200 givenname: Jin P surname: Szatkiewicz fullname: Szatkiewicz, Jin P organization: Department of Genetics, University of North Carolina at Chapel Hill – sequence: 203 givenname: Juha surname: Veijola fullname: Veijola, Juha organization: Department of Psychiatry, University of Oulu, Department of Psychiatry, University Hospital of Oulu – sequence: 205 givenname: John surname: Waddington fullname: Waddington, John organization: Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland – sequence: 207 givenname: Bradley T surname: Webb fullname: Webb, Bradley T organization: Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University – sequence: 210 givenname: Nigel M surname: Williams fullname: Williams, Nigel M organization: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University – sequence: 211 givenname: Stephanie surname: Williams fullname: Williams, Stephanie organization: Department of Genetics, University of North Carolina at Chapel Hill – sequence: 213 givenname: Aaron R surname: Wolen fullname: Wolen, Aaron R organization: Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University – sequence: 218 givenname: Rolf surname: Adolfsson fullname: Adolfsson, Rolf organization: Department of Clinical Sciences, Psychiatry, Umeå University – sequence: 220 givenname: Douglas H R surname: Blackwood fullname: Blackwood, Douglas H R organization: Division of Psychiatry, University of Edinburgh – sequence: 221 givenname: Elvira surname: Bramon fullname: Bramon, Elvira organization: Division of Psychiatry, University College London – sequence: 222 givenname: Joseph D surname: Buxbaum fullname: Buxbaum, Joseph D organization: Department of Psychiatry, Icahn School of Medicine at Mount Sinai, Department of Human Genetics, Icahn School of Medicine at Mount Sinai, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, Department of Neuroscience, Icahn School of Medicine at Mount Sinai – sequence: 224 givenname: David A surname: Collier fullname: Collier, David A organization: Eli Lilly and Company, Ltd., Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London – sequence: 226 givenname: Mark J surname: Daly fullname: Daly, Mark J organization: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Medical and Population Genetics Program, Broad Institute of MIT and Harvard – sequence: 227 givenname: Ariel surname: Darvasi fullname: Darvasi, Ariel organization: Department of Genetics, Hebrew University of Jerusalem – sequence: 228 givenname: Enrico surname: Domenici fullname: Domenici, Enrico organization: Neuroscience Discovery and Translational Area, Pharma Research and Early Development, F. Hoffmann-La Roche, Ltd, Centre for Integrative Biology, University of Trento – sequence: 231 givenname: Michael surname: Gill fullname: Gill, Michael organization: Department of Psychiatry, Neuropsychiatric Genetics Research Group, Trinity College Dublin – sequence: 234 givenname: Nakao surname: Iwata fullname: Iwata, Nakao organization: Department of Psychiatry, Fujita Health University School of Medicine – sequence: 235 givenname: Assen V surname: Jablensky fullname: Jablensky, Assen V organization: Schizophrenia Research Institute, Perkins Institute for Medical Research, University of Western Australia, School of Psychiatry and Clinical Neurosciences, University of Western Australia, Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, University of Western Australia – sequence: 236 givenname: Erik G surname: Jönsson fullname: Jönsson, Erik G organization: NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet – sequence: 238 givenname: George surname: Kirov fullname: Kirov, George organization: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University – sequence: 239 givenname: Jo surname: Knight fullname: Knight, Jo organization: Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Institute of Medical Science, University of Toronto – sequence: 240 givenname: Douglas F surname: Levinson fullname: Levinson, Douglas F organization: Department of Psychiatry and Behavioral Sciences, Stanford University – sequence: 247 givenname: Roel A surname: Ophoff fullname: Ophoff, Roel A organization: Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA., Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA – sequence: 248 givenname: Michael J surname: Owen fullname: Owen, Michael J organization: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, National Centre for Mental Health, Cardiff University – sequence: 253 givenname: Marcella surname: Rietschel fullname: Rietschel, Marcella organization: Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg – sequence: 255 givenname: Dan surname: Rujescu fullname: Rujescu, Dan organization: Department of Psychiatry, University of Halle, Department of Psychiatry, University of Munich – sequence: 261 givenname: Michael C surname: O'Donovan fullname: O'Donovan, Michael C organization: MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, National Centre for Mental Health, Cardiff University – sequence: 263 givenname: Benjamin M surname: Neale fullname: Neale, Benjamin M organization: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Medical and Population Genetics Program, Broad Institute of MIT and Harvard |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27869829$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-04589228$$DView record in HAL https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-131884$$DView record from Swedish Publication Index http://kipublications.ki.se/Default.aspx?queryparsed=id:135072932$$DView record from Swedish Publication Index |
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| Snippet | The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease... Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the... Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genomewide investigation of the contribution... |
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| SubjectTerms | 45 45/23 631/208/212 692/308/2056 692/699/476/1799 Agriculture Analysis Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Cancer Research Case-Control Studies Consortia Copy number variations Data processing Datasets Development and progression DNA Copy Number Variations DNA Copy Number Variations - genetics Female Gene Function Genetic aspects Genetic Loci Genetic Loci - genetics Genetic Markers Genetic Markers - genetics Genetic Predisposition to Disease Genome-wide association studies Genome-Wide Association Study Genomes Genomics Genotype Human Genetics Human health and pathology Humans Life Sciences Male Mental disorders Meta-analysis Pipelines Quality control Risk Factors Schizophrenia Schizophrenia - genetics Studies Working groups |
| Title | Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects |
| URI | https://link.springer.com/article/10.1038/ng.3725 https://www.ncbi.nlm.nih.gov/pubmed/27869829 https://www.proquest.com/docview/1855881429 https://www.proquest.com/docview/1842549659 https://hal.sorbonne-universite.fr/hal-04589228 https://pubmed.ncbi.nlm.nih.gov/PMC5737772 https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-131884 http://kipublications.ki.se/Default.aspx?queryparsed=id:135072932 |
| Volume | 49 |
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