Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs

Research output: Contribution to journalReview articleContributedpeer-review

Contributors

  • ENIGMA-CNV Working Group - (Author)
  • Division of Psychological and Social Medicine and Developmental Neurosciences
  • Department of Child and Adolescent Psychiatry and Psychotherapy
  • University of Oslo
  • Keck School of Medicine at University of Southern California
  • Maastricht University
  • University of California at Los Angeles
  • Department of Veterans Affairs
  • Diakonhjemmet Hospital
  • Karolinska Institutet
  • Jülich Research Centre
  • University Hospital Duesseldorf
  • Hospital General Universitario Gregorio Marañon
  • CIBER - Center for Biomedical Research Network
  • Murdoch University
  • Hospital Universitario Marques de Valdecilla
  • Vrije Universiteit Amsterdam (VU)
  • University of Toronto
  • University of Amsterdam
  • University of Greifswald
  • Georgia Institute of Technology
  • University of Basel
  • King's College London (KCL)
  • Hospital Universitario Virgen del Rocio
  • Cardiff University
  • University of California at San Diego
  • Queensland University of Technology
  • University of Bergen
  • University of Galway
  • University of Lausanne
  • Max Planck Institute for Human Cognitive and Brain Sciences
  • University of California at Davis
  • University of Pennsylvania
  • Bjørknes University College
  • Max Planck Institute for Psycholinguistics
  • Radboud University Nijmegen
  • Massachusetts General Hospital
  • Harvard University
  • German Center for Neurodegenerative Diseases (DZNE)
  • Illinois Institute of Technology
  • Haukeland universitets­sjukehus
  • Norwegian University of Science and Technology
  • St Olavs' University Hospital
  • National Center of Neurology and Psychiatry Kodaira
  • Osaka University
  • Genentech Incorporated
  • Yale University
  • Utrecht University

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.

Details

Original languageEnglish
Pages (from-to)300-328
Number of pages29
JournalHuman brain mapping
Volume43
Issue number1
Publication statusPublished - Jan 2022
Peer-reviewedYes

External IDs

PubMed 33615640
ORCID /0000-0003-2132-4445/work/165452223
ORCID /0000-0002-1753-7811/work/165454065

Keywords

Keywords

  • brain structural imaging, copy number variant, diffusion tensor imaging, evolution, genetics-first approach, neurodevelopmental disorders, psychiatric disorders

Library keywords