Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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33615640
TITLE
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
ABSTRACT
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.
© 2021 The Authors. Human Brain Mapping published by Wiley Periodicals LLC.
DATE PUBLISHED
2021 Feb 21
HISTORY
PUBSTATUS PUBSTATUSDATE
revised 2021/01/07
received 2020/08/31
accepted 2021/01/13
pubmed 2021/02/23 06:00
medline 2021/02/23 06:00
entrez 2021/02/22 06:28
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Sønderby IE Sønderby Ida E IE KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
Ching CRK Ching Christopher R K CRK Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Thomopoulos SI Thomopoulos Sophia I SI Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
van der Meer D van der Meer Dennis D School of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.
Sun D Sun Daqiang D Department of Mental Health, Veterans Affairs Greater Los Angeles Healthcare System, Los Angeles, California, USA.
Villalon-Reina JE Villalon-Reina Julio E JE Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Agartz I Agartz Ingrid I Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Amunts K Amunts Katrin K Cecile and Oskar Vogt Institute for Brain Research, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Arango C Arango Celso C Centro Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Armstrong NJ Armstrong Nicola J NJ Mathematics and Statistics, Murdoch University, Perth, Western Australia, Australia.
Ayesa-Arriola R Ayesa-Arriola Rosa R Department of Psychiatry, Marqués de Valdecilla University Hospital, Valdecilla Biomedical Research Institute (IDIVAL), Santander, Spain.
Bakker G Bakker Geor G Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands.
Bassett AS Bassett Anne S AS Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Boomsma DI Boomsma Dorret I DI Amsterdam Public Health (APH) Research Institute, Amsterdam UMC, Amsterdam, The Netherlands.
Bülow R Bülow Robin R Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
Butcher NJ Butcher Nancy J NJ Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
Calhoun VD Calhoun Vince D VD Tri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), Georgia State, Georgia Tech, Emory, Atlanta, Georgia, USA.
Caspers S Caspers Svenja S Institute for Anatomy I, Medical Faculty & University Hospital Düsseldorf, University of Düsseldorf, Düsseldorf, Germany.
Chow EWC Chow Eva W C EWC Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Cichon S Cichon Sven S Department of Biomedicine, University of Basel, Basel, Switzerland.
Ciufolini S Ciufolini Simone S Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Craig MC Craig Michael C MC 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.
Crespo-Facorro B Crespo-Facorro Benedicto B HU Virgen del Rocio, IBIS, Universidad de Sevilla, CIBERSAM, Sevilla, Spain.
Cunningham AC Cunningham Adam C AC MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Dale AM Dale Anders M AM Department Radiology, University of California San Diego, La Jolla, California, USA.
Dazzan P Dazzan Paola P Department of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
de Zubicaray GI de Zubicaray Greig I GI Faculty of Health, Queensland University of Technology (QUT), Brisbane, Queensland, Australia.
Djurovic S Djurovic Srdjan S NORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.
Doherty JL Doherty Joanne L JL Cardiff University Brain Research Imaging Centre (CUBRIC), Cardiff, United Kingdom.
Donohoe G Donohoe Gary G Center for Neuroimaging, Genetics and Genomics, School of Psychology, NUI Galway, Galway, Ireland.
Draganski B Draganski Bogdan B Neurology Department, Max-Planck Institute for Human Brain and Cognitive Sciences, Leipzig, Germany.
Durdle CA Durdle Courtney A CA MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, California, USA.
Ehrlich S Ehrlich Stefan S Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, TU Dresden, Dresden, Germany.
Emanuel BS Emanuel Beverly S BS Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Espeseth T Espeseth Thomas T Department of Psychology, Bjørknes College, Oslo, Norway.
Fisher SE Fisher Simon E SE Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
Ge T Ge Tian T Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Glahn DC Glahn David C DC Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.
Grabe HJ Grabe Hans J HJ Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
Gur RE Gur Raquel E RE Youth Suicide Prevention, Intervention and Research Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Gutman BA Gutman Boris A BA Medical Imaging Research Center, Department of Biomedical Engineering, Illinois Institute of Technology, Chicago, Illinois, USA.
Haavik J Haavik Jan J Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
Håberg AK Håberg Asta K AK Department of Radiology and Nuclear Medicine, St. Olavs Hospital, Trondheim, Norway.
Hansen LA Hansen Laura A LA Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA.
Hashimoto R Hashimoto Ryota R Department of Psychiatry, Osaka University Graduate School of Medicine, Osaka, Japan.
Hibar DP Hibar Derrek P DP Personalized Healthcare Analytics, Genentech, Inc., South San Francisco, California, USA.
Holmes AJ Holmes Avram J AJ Department of Psychiatry, Yale University, New Haven, Connecticut, USA.
Hottenga JJ Hottenga Jouke-Jan JJ Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Hulshoff Pol HE Hulshoff Pol Hilleke E HE Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Jalbrzikowski M Jalbrzikowski Maria M Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Knowles EEM Knowles Emma E M EEM Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts, USA.
Kushan L Kushan Leila L Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, USA.
Linden DEJ Linden David E J DEJ Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom.
Liu J Liu Jingyu J Computer Science, Georgia State University, Atlanta, Georgia, USA.
Lundervold AJ Lundervold Astri J AJ Department of Biological and Medical Psychology, University of Bergen, Bergen, Norway.
Martin-Brevet S Martin-Brevet Sandra S LREN, Centre for Research in Neuroscience, Department of Neuroscience, University Hospital Lausanne and University Lausanne, Lausanne, Switzerland.
Martínez K Martínez Kenia K Facultad de Psicología, Universidad Autónoma de Madrid, Madrid, Spain.
Mather KA Mather Karen A KA Neuroscience Research Australia, Sydney, New South Wales, Australia.
Mathias SR Mathias Samuel R SR Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts, USA.
McDonald-McGinn DM McDonald-McGinn Donna M DM Division of Human Genetics and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
McRae AF McRae Allan F AF Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Medland SE Medland Sarah E SE Psychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Moberget T Moberget Torgeir T Department of Psychology, Faculty of Social Sciences, University of Oslo, Oslo, Norway.
Modenato C Modenato Claudia C University of Lausanne, Lausanne, Switzerland.
Monereo Sánchez J Monereo Sánchez Jennifer J Department of Radiology and Nuclear Medicine, Maastricht University Medical Center, Maastricht, The Netherlands.
Moreau CA Moreau Clara A CA Sainte Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.
Mühleisen TW Mühleisen Thomas W TW Department of Biomedicine, University of Basel, Basel, Switzerland.
Paus T Paus Tomas T Departments of Psychology and Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Pausova Z Pausova Zdenka Z Translational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Prieto C Prieto Carlos C Bioinformatics Service, Nucleus, University of Salamanca, Salamanca, Spain.
Ragothaman A Ragothaman Anjanibhargavi A Biomedical Engineering, Oregon Health and Science University, Portland, Oregon, USA.
Reinbold CS Reinbold Céline S CS Centre for Lifespan Changes in Brain and Cognition, Department of Psychology, University of Oslo, Oslo, Norway.
Reis Marques T Reis Marques Tiago T Psychiatric Imaging Group, MRC London Institute of Medical Sciences (LMS), Hammersmith Hospital, Imperial College London, London, United Kingdom.
Repetto GM Repetto Gabriela M GM Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Reymond A Reymond Alexandre A Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Roalf DR Roalf David R DR Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Rodriguez-Herreros B Rodriguez-Herreros Borja B Service de Troubles du Spectre de l'Autisme, Lausanne University Hospital, Lausanne, Switzerland.
Rucker JJ Rucker James J JJ Department of Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Sachdev PS Sachdev Perminder S PS Neuropsychiatric Institute, The Prince of Wales Hospital, Sydney, New South Wales, Australia.
Schmitt JE Schmitt James E JE Department of Radiology and Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Schofield PR Schofield Peter R PR School of Medical Sciences, UNSW Sydney, Sydney, New South Wales, Australia.
Silva AI Silva Ana I AI School for Mental Health and Neuroscience, Department of Psychiatry and Neuropsychology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.
Stefansson H Stefansson Hreinn H Population Genomics, deCODE genetics/Amgen, Reykjavik, Iceland.
Stein DJ Stein Dan J DJ SA MRC Unit on Risk & Resilience in Mental Disorders, Department of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Tamnes CK Tamnes Christian K CK PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway.
Tordesillas-Gutiérrez D Tordesillas-Gutiérrez Diana D Neuroimaging Unit, Technological Facilities, Valdecilla Biomedical Research Institute (IDIVAL), Santander, Spain.
Ulfarsson MO Ulfarsson Magnus O MO Faculty of Electrical and Computer Engineering, University of Iceland, Reykjavik, Iceland.
Vajdi A Vajdi Ariana A Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, USA.
van 't Ent D van 't Ent Dennis D Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
van den Bree MBM van den Bree Marianne B M MBM MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Vassos E Vassos Evangelos E Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
Vázquez-Bourgon J Vázquez-Bourgon Javier J School of Medicine, University of Cantabria, Santander, Spain.
Vila-Rodriguez F Vila-Rodriguez Fidel F Department of Psychiatry, The University of British Columbia, Vancouver, British Columbia, Canada.
Walters GB Walters G Bragi GB Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Wen W Wen Wei W Centre for Healthy Brain Ageing (CHeBA), School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Westlye LT Westlye Lars T LT NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Wittfeld K Wittfeld Katharina K Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
Zackai EH Zackai Elaine H EH Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Stefánsson K Stefánsson Kári K Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Jacquemont S Jacquemont Sebastien S Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
Thompson PM Thompson Paul M PM Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Bearden CE Bearden Carrie E CE Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, California, USA.
Andreassen OA Andreassen Ole A OA Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
ENIGMA-CNV Working Group
ENIGMA 22q11.2 Deletion Syndrome Working Group
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Bernard Manon M
Blackburn Nicholas B NB
Bøen Rune R
de Geus Eco E
de Zwarte Sonja M C SMC
Forti Marta Di MD
Frei Oleksandr O
Fukunaga Masaki M
Hehir-Kwa Jayne Y JY
Hillegers Manon H J MHJ
Hoffmann Per P
Homuth Georg G
Jahanshad Neda N
Koops Sanne S
Kumar Kuldeep K
Kikuchi Masataka M
Le Hellard Stephanie S
Leu Costin C
Murray Robin M RM
Naerland Terje T
Nyberg Lars L
Ophoff Roel A RA
Pike G Bruce GB
Sando Sigrid B SB
Shin Jean J
Shumskaya Elena E
Sisodiya Sanjay M SM
Steen Vidar M VM
Teumer Alexander A
Uhlmann Anne A
Wright Margaret J MJ
Antshel Kevin M KM
Campbell Linda E LE
Crossley Nicolas A NA
Crowley T Blaine TB
Daly Eileen E
Fiksinski Ania M AM
Forsyth Jennifer K JK
Fremont Wanda W
Goodrich-Hunsaker Naomi J NJ
Gudbrandsen Maria M
Jonas Rachel K RK
Kates Wendy R WR
Lin Amy A
McCabe Kathryn L KL
Moss Hayley H
Murphy Declan G DG
Murphy Kieran C KC
Owen Michael J MJ
Ruparel Kosha K
Simon Tony J TJ
van Amelsvoort Therese T
Vorstman Jacob A S JAS
JOURNAL
VOLUME:
ISSUE:
TITLE: Human brain mapping
ISOABBREVIATION: Hum Brain Mapp
YEAR: 2021
MONTH: Feb
DAY: 21
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1097-0193
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Brain Mapp
COUNTRY: United States
ISSNLINKING: 1065-9471
NLMUNIQUEID: 9419065
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Review
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
CoMorMent project; Grant #847776 European Union's Horizon2020 Research and Innovation Programme
#223273 Norges Forskningsråd
U54 EB020403 NIH HHS United States
KG Jebsen Stiftelsen
R01 MH119185 NIMH NIH HHS United States
#2020060 South-Eastern Norway Regional Health Authority
R01 MH120174 NIMH NIH HHS United States
GENERAL NOTE
KEYWORDS
KEYWORD
brain structural imaging
copy number variant
diffusion tensor imaging
evolution
genetics-first approach
neurodevelopmental disorders
psychiatric disorders
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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