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Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
Sønderby, Ida E; Ching, Christopher R K; Thomopoulos, Sophia I; van der Meer, Dennis; Sun, Daqiang; Villalon-Reina, Julio E; Agartz, Ingrid; Amunts, Katrin; Arango, Celso; Armstrong, Nicola J; Ayesa-Arriola, Rosa; Bakker, Geor; Bassett, Anne S; Boomsma, Dorret I; Bülow, Robin; Butcher, Nancy J; Calhoun, Vince D; Caspers, Svenja; Chow, Eva W C; Cichon, Sven; Ciufolini, Simone; Craig, Michael C; Crespo-Facorro, Benedicto; Cunningham, Adam C; Dale, Anders M; Dazzan, Paola; de Zubicaray, Greig I; Djurovic, Srdjan; Doherty, Joanne L; Donohoe, Gary; Draganski, Bogdan; Durdle, Courtney A; Ehrlich, Stefan; Emanuel, Beverly S; Espeseth, Thomas; Fisher, Simon E; Ge, Tian; Glahn, David C; Grabe, Hans J; Gur, Raquel E; Gutman, Boris A; Haavik, Jan; Håberg, Asta K; Hansen, Laura A; Hashimoto, Ryota; Hibar, Derrek P; Holmes, Avram J; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Jalbrzikowski, Maria.
Afiliação
  • Sønderby IE; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Ching CRK; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Thomopoulos SI; KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
  • van der Meer D; Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
  • Sun D; Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
  • Villalon-Reina JE; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Agartz I; School of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.
  • Amunts K; Semel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, University of California Los Angeles, Los Angeles, California, USA.
  • Arango C; Department of Mental Health, Veterans Affairs Greater Los Angeles Healthcare System, Los Angeles, California, USA.
  • Armstrong NJ; Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
  • Ayesa-Arriola R; NORMENT, Institute of Clinical Psychiatry, University of Oslo, Oslo, Norway.
  • Bakker G; Department of Psychiatric Research, Diakonhjemmet Hospital, Oslo, Norway.
  • Bassett AS; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Boomsma DI; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.
  • Bülow R; Cecile and Oskar Vogt Institute for Brain Research, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
  • Butcher NJ; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañon, IsSGM, Universidad Complutense, School of Medicine, Madrid, Spain.
  • Calhoun VD; Centro Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
  • Caspers S; Mathematics and Statistics, Murdoch University, Perth, Western Australia, Australia.
  • Chow EWC; Centro Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
  • Cichon S; Department of Psychiatry, Marqués de Valdecilla University Hospital, Valdecilla Biomedical Research Institute (IDIVAL), Santander, Spain.
  • Ciufolini S; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.
  • Craig MC; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands.
  • Crespo-Facorro B; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Cunningham AC; Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.
  • Dale AM; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
  • Dazzan P; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • de Zubicaray GI; Amsterdam Public Health (APH) Research Institute, Amsterdam UMC, Amsterdam, The Netherlands.
  • Djurovic S; Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
  • Doherty JL; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
  • Donohoe G; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
  • Draganski B; Tri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), Georgia State, Georgia Tech, Emory, Atlanta, Georgia, USA.
  • Durdle CA; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.
  • Ehrlich S; Institute for Anatomy I, Medical Faculty & University Hospital Düsseldorf, University of Düsseldorf, Düsseldorf, Germany.
  • Emanuel BS; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Espeseth T; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
  • Fisher SE; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.
  • Ge T; Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
  • Glahn DC; Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Grabe HJ; Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Gur RE; Department of Forensic and Neurodevelopmental Sciences, The Sackler Institute for Translational Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London, United Kingdom.
  • Gutman BA; HU Virgen del Rocio, IBIS, Universidad de Sevilla, CIBERSAM, Sevilla, Spain.
  • Haavik J; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
  • Håberg AK; Center for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, California, USA.
  • Hansen LA; Department Radiology, University of California San Diego, La Jolla, California, USA.
  • Hashimoto R; Department of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Hibar DP; Faculty of Health, Queensland University of Technology (QUT), Brisbane, Queensland, Australia.
  • Holmes AJ; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Hottenga JJ; NORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Hulshoff Pol HE; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
  • Jalbrzikowski M; Cardiff University Brain Research Imaging Centre (CUBRIC), Cardiff, United Kingdom.
Hum Brain Mapp ; 43(1): 300-328, 2022 01.
Article em En | MEDLINE | ID: mdl-33615640
The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This "genotype-first" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article