Your browser doesn't support javascript.
loading
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Marshall, Christian R; Howrigan, Daniel P; Merico, Daniele; Thiruvahindrapuram, Bhooma; Wu, Wenting; Greer, Douglas S; Antaki, Danny; Shetty, Aniket; Holmans, Peter A; Pinto, Dalila; Gujral, Madhusudan; Brandler, William M; Malhotra, Dheeraj; Wang, Zhouzhi; Fajarado, Karin V Fuentes; Maile, Michelle S; Ripke, Stephan; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amin, Farooq; Atkins, Joshua; Bacanu, Silviu A; Belliveau, Richard A; Bergen, Sarah E; Bertalan, Marcelo; Bevilacqua, Elizabeth; Bigdeli, Tim B; Black, Donald W; Bruggeman, Richard; Buccola, Nancy G; Buckner, Randy L; Bulik-Sullivan, Brendan; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J; Campion, Dominique; Cantor, Rita M; Carr, Vaughan J; Carrera, Noa; Catts, Stanley V; Chambert, Kimberley D; Cheng, Wei; Cloninger, C Robert; Cohen, David; Cormican, Paul; Craddock, Nick; Crespo-Facorro, Benedicto; Crowley, James J.
Afiliação
  • Marshall CR; Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Howrigan DP; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Merico D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Thiruvahindrapuram B; Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Wu W; Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Greer DS; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Antaki D; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Shetty A; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Holmans PA; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Pinto D; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Gujral M; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Brandler WM; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Malhotra D; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Wang Z; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
  • Fajarado KVF; National Centre for Mental Health, Cardiff University, Cardiff, UK.
  • Maile MS; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Ripke S; 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.
  • Agartz I; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Albus M; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Alexander M; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Amin F; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Atkins J; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Bacanu SA; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Belliveau RA; Neuroscience Discovery and Translational Area, Pharma Research and Early Development, F. Hoffmann-La Roche, Ltd, Basel, Switzerland.
  • Bergen SE; Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bertalan M; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Bevilacqua E; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Bigdeli TB; Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.
  • Black DW; Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
  • Bruggeman R; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Buccola NG; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Buckner RL; NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Bulik-Sullivan B; Department of Psychiatry, Diakonhjemmet Hospital, Oslo, Norway.
  • Byerley W; Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden.
  • Cahn W; State Mental Hospital, Haar, Germany.
  • Cai G; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
  • Cairns MJ; Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, Georgia, USA.
  • Campion D; Department of Psychiatry and Behavioral Sciences, Atlanta Veterans Affairs Medical Center, Atlanta, Georgia, USA.
  • Cantor RM; School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia.
  • Carr VJ; Hunter Medical Research Institute, New Lambton, New South Wales, Australia.
  • Carrera N; Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, Virginia, USA.
  • Catts SV; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Chambert KD; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Cheng W; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
  • Cloninger CR; Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Mental Health Services Copenhagen, Copenhagen, Denmark.
  • Cohen D; Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
  • Cormican P; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Craddock N; Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, Virginia, USA.
  • Crespo-Facorro B; Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • Crowley JJ; Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Nat Genet ; 49(1): 27-35, 2017 01.
Article em En | MEDLINE | ID: mdl-27869829
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.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Marcadores Genéticos / Estudo de Associação Genômica Ampla / Loci Gênicos / Variações do Número de Cópias de DNA Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Marcadores Genéticos / Estudo de Associação Genômica Ampla / Loci Gênicos / Variações do Número de Cópias de DNA Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article