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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby, Ida E; van der Meer, Dennis; Moreau, Clara; Kaufmann, Tobias; Walters, G Bragi; Ellegaard, Maria; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J; Bernard, Manon; Blackburn, Nicholas B; Blangero, John; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Bülow, Robin; Bøen, Rune; Cahn, Wiepke; Calhoun, Vince D; Caspers, Svenja; Ching, Christopher R K; Cichon, Sven; Ciufolini, Simone; Crespo-Facorro, Benedicto; Curran, Joanne E; Dale, Anders M; Dalvie, Shareefa; Dazzan, Paola; de Geus, Eco J C; de Zubicaray, Greig I; de Zwarte, Sonja M C; Desrivieres, Sylvane; Doherty, Joanne L; Donohoe, Gary; Draganski, Bogdan; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fejgin, Kim; Fisher, Simon E; Fladby, Tormod; Frei, Oleksandr; Frouin, Vincent; Fukunaga, Masaki; Gareau, Thomas; Ge, Tian; Glahn, David C; Grabe, Hans J.
Afiliação
  • Sønderby IE; NORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway. i.e.sonderby@medisin.uio.no.
  • van der Meer D; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. i.e.sonderby@medisin.uio.no.
  • Moreau C; KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway. i.e.sonderby@medisin.uio.no.
  • Kaufmann T; NORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Walters GB; School of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.
  • Ellegaard M; Sainte Justine Hospital Research Center, Montreal, Quebec, Canada.
  • Abdellaoui A; Centre de recherche de l'Institut universitaire de gériatrie de Montréal, Montreal, Quebec, Canada.
  • Ames D; NORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Amunts K; Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany.
  • Andersson M; deCODE Genetics (Amgen), Reykjavík, Iceland.
  • Armstrong NJ; Faculty of Medicine, University of Iceland, Reykjavík, Iceland.
  • Bernard M; Department of Clinical Biochemistry, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
  • Blackburn NB; Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Blangero J; Department of Biological Psychology and Netherlands Twin Register, VU University Amsterdam, Amsterdam, the Netherlands.
  • Boomsma DI; University of Melbourne Academic Unit for Psychiatry of Old Age, Kew, Australia.
  • Brodaty H; National Ageing Research Institute, Parkville, Australia.
  • Brouwer RM; Institute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.
  • Bülow R; C. and O. Vogt Institute for Brain Research, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Duesseldorf, Düsseldorf, Germany.
  • Bøen R; Umeå Centre for Functional Brain Imaging, Umeå University, Umeå, Sweden.
  • Cahn W; Department of Integrative Medical Biology, Umeå University, Umeå, Sweden.
  • Calhoun VD; Mathematics and Statistics, Murdoch University, Perth, Australia.
  • Caspers S; Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ching CRK; South Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, USA.
  • Cichon S; South Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, USA.
  • Ciufolini S; Department of Biological Psychology and Netherlands Twin Register, VU University Amsterdam, Amsterdam, the Netherlands.
  • Crespo-Facorro B; Amsterdam Neuroscience, Amsterdam, the Netherlands.
  • Curran JE; Amsterdam Public Health Research Institute, VU Medical Center, Amsterdam, the Netherlands.
  • Dale AM; Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia.
  • Dalvie S; Dementia Centre for Research Collaboration, School of Psychiatry, University of New South Wales, Sydney, Australia.
  • Dazzan P; Department of Psychiatry, University Medical Center Brain Center, Utrecht University, Utrecht, the Netherlands.
  • de Geus EJC; Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
  • de Zubicaray GI; NORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • de Zwarte SMC; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Desrivieres S; Department of Psychiatry, University Medical Center Brain Center, Utrecht University, Utrecht, the Netherlands.
  • Doherty JL; Altrecht Science, Utrecht, the Netherlands.
  • Donohoe G; Tri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), Georgia State University, Georgia Institute of Technology, Emory University, Atlanta, USA.
  • Draganski B; The Department of Electrical and Computer Engineering, University of New Mexico, Albuquerque, USA.
  • Ehrlich S; Institute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.
  • Eising E; Institute for Anatomy I, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Espeseth T; Imaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, University of Southern California, Los Angeles, USA.
  • Fejgin K; Institute of Neuroscience and Medicine, INM-1, Research Centre Jülich, Jülich, Germany.
  • Fisher SE; Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Fladby T; Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
  • Frei O; Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Frouin V; University Hospital Marqués de Valdecilla, IDIVAL, Centro de Investigación Biomédica en Red Salud Mental (CIBERSAM), Santander, Spain.
  • Fukunaga M; University Hospital Virgen del Rocío, IBiS, Centre de Investigació Biomédica en Red Salud Mental (CIBERSAM), Sevilla, Spain.
  • Gareau T; South Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, USA.
  • Ge T; Center for Multimodal Imaging and Genetics, University of California, San Diego, USA.
  • Glahn DC; Department of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, Western Cape, South Africa.
  • Grabe HJ; Department of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Transl Psychiatry ; 11(1): 182, 2021 03 22.
Article em En | MEDLINE | ID: mdl-33753722
ABSTRACT
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Variações do Número de Cópias de DNA Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Variações do Número de Cópias de DNA Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article