Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs
Open accessAbstract
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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Subcortical differences in 15q11.2 CNV deletion carriers appear restricted to decreased volume in the accumbens.
“In contrast, subcortical differences appear restricted to decreased volume in the accumbens.”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [72]
The “Summary and implications of the findings” section says the nucleus accumbens is altered in 15q11.2 deletion carriers but not duplication carriers. Our copy does not state there that its volume is decreased or that it is the only subcortical difference in deletion carriers; Figure 4’s caption identifies the comparison but gives no values. Page numbers were unavailable in the indexed copy. (LLM, conf=0.82)
Experimental — accuracy not yet measuredDifferences in frontal and accumbens morphology in 15q11.2 CNV deletion carriers were associated with reduced cognitive flexibility on the Trial Making Task (B).
“These differences in frontal and accumbens morphology were associated with reduced cognitive flexibility on the Trial Making Task (B) [72, 73].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [72]
The ‘Other CNVs’ section (page not provided) reports poorer cognitive performance and frontal cortical differences in 15q11.2 deletion carriers. It does not link those morphological differences to cognitive flexibility or report a Trail Making Task B result; its accumbens findings concern other CNVs. (LLM, conf=0.86)
Experimental — accuracy not yet measured15q11.2 CNV deletion carriers show dysfunctional connectivity in fronto-striatal circuitry and widespread differences in brain morphology throughout the cortex, including the frontal and cingulate cortices.
“Dysfunctional connectivity in fronto-striatal circuitry is supported by evidence in 15q11.2 CNV deletion carriers with widespread differences in brain morphology seen throughout the cortex, including the frontal and cingulate cortices.”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [72]
The “Other CNVs” section reports widespread differences in cortical surface area and thickness in 15q11.2 deletion carriers, particularly in the frontal lobe and anterior cingulate (page unavailable). It does not report dysfunctional fronto-striatal connectivity in those carriers; its mention of white-matter alterations does not establish that specific claim. (LLM, conf=0.90)
Experimental — accuracy not yet measured
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Self-citationThe 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
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“Reflecting these small effects, the vast majority of carriers are not clinically affected, and the deletion is inherited in >90% of the cases (Cox & Butler, 2015; Jønch et al., 2019; Mohan et al., 2019).”
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“Reflecting these small effects, the vast majority of carriers are not clinically affected, and the deletion is inherited in >90% of the cases (Cox & Butler, 2015; Jønch et al., 2019; Mohan et al., 2019).”
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Self-citation
Flagged first, then by citations
Research works printed but not linked: 2
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Cited by
Sorted by citations
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- Authors
- Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., Ayesa‐Arriola, R., Bakker, G., Bassett, A. S., Boomsma, D. I., Bülow, R., Butcher, N. J., Calhoun, V. D., Caspers, S., Chow, E. W. C., Cichon, S., Ciufolini, S., Craig, M. C., Crespo‐Facorro, B., Cunningham, A. C., Dale, A. M., Dazzan, P., de Zubicaray, G. I., Djurovic, S., Doherty, J. L., Donohoe, G., Draganski, B., Durdle, C. A., Ehrlich, S., Emanuel, B. S., Espeseth, T., Fisher, S. E., Ge, T., Glahn, D. C., Grabe, H. J., Gur, R. E., Gutman, B. A., Haavik, J., Håberg, A. K., Hansen, L. A., Hashimoto, R., Hibar, D. P., Holmes, A. J., Hottenga, J., Hulshoff Pol, H. E., Jalbrzikowski, M., Knowles, E. E. M., Kushan, L., Linden, D. E. J., Liu, J., Lundervold, A. J., Martin‐Brevet, S., Martínez, K., Mather, K. A., Mathias, S. R., McDonald‐McGinn, D. M., McRae, A. F., Medland, S. E., Moberget, T., Modenato, C., Monereo Sánchez, J., Moreau, C. A., Mühleisen, T. W., Paus, T., Pausova, Z., Prieto, C., Ragothaman, A., Reinbold, C. S., Reis Marques, T., Repetto, G. M., Reymond, A., Roalf, D. R., Rodriguez‐Herreros, B., Rucker, J. J., Sachdev, P. S., Schmitt, J. E., Schofield, P. R., Silva, A. I., Stefansson, H., Stein, D. J., Tamnes, C. K., Tordesillas‐Gutiérrez, D., Ulfarsson, M. O., Vajdi, A., van 't Ent, D., van den Bree, M. B. M., Vassos, E., Vázquez‐Bourgon, J., Vila‐Rodriguez, F., Walters, G. B., Wen, W., Westlye, L. T., Wittfeld, K., Zackai, E. H., Stefánsson, K., Jacquemont, S., Thompson, P. M., Bearden, C. E., Andreassen, O. A., for the ENIGMA‐CNV Working Group, & for the ENIGMA 22q11.2 Deletion Syndrome Working Group
- Affiliations
- Oslo University Hospital (NO)
- University of Southern California (US)
- Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction Oslo University Hospital and University of Oslo Oslo Norway
- University of California, Los Angeles (US)
- Imaging Genetics Center Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California Marina del Rey California USA
- University of Oslo (NO)
- Forschungszentrum Jülich (DE)
- Universidad Complutense de Madrid (ES)
- Murdoch University (AU)
- Centro de Investigación Biomédica en Red de Salud Mental (ES)
- Maastricht University (NL)
- University Health Network (CA)
- Amsterdam Public Health (NL)
- Universitätsmedizin Greifswald (DE)
- University of Toronto (CA)
- Georgia Institute of Technology (US)
- Centre for Addiction and Mental Health (CA)
- King's College London (GB)
- Cardiff University (GB)
- University of California San Diego (US)
- Faculty of Health Queensland University of Technology (QUT) Brisbane Queensland Australia
- Ollscoil na Gaillimhe – University of Galway (IE)
- Centre Hospitalier Universitaire Vaudois (CH)
- University of California, Davis (US)
- Technische Universität Dresden (DE)
- University of Pennsylvania (US)
- Radboud University Nijmegen (NL)
- Harvard University (US)
- Boston Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Illinois Institute of Technology (US)
- Haukeland University Hospital (NO)
- Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Trondheim Norway
- National Center of Neurology and Psychiatry (JP)
- Genentech (US)
- Yale University (US)
- Vrije Universiteit Amsterdam (NL)
- Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht Utrecht University Utrecht The Netherlands
- University of Pittsburgh (US)
- University of Bergen (NO)
- UNSW Sydney (AU)
- The University of Queensland (AU)
- QIMR Berghofer Medical Research Institute (AU)
- School for Mental Health and Neuroscience Maastricht University Maastricht The Netherlands
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Bloorview Research Institute Holland Bloorview Kids Rehabilitation Hospital Toronto Ontario Canada
- Translational Medicine, The Hospital for Sick Children Toronto Ontario Canada
- Universidad de Salamanca (ES)
- Oregon Health & Science University (US)
- Department of Psychosis Studies Institute of Psychiatry, Psychology and Neuroscience, King's College London London United Kingdom
- Clínica Alemana (CL)
- University of Lausanne (CH)
- Service de Troubles du Spectre de l'Autisme Lausanne University Hospital Lausanne Switzerland
- Population Genomics, deCODE genetics/Amgen Reykjavik Iceland
- South African Medical Research Council (ZA)
- deCODE Genetics (Iceland) (IS)
- Department of Biological Psychology Vrije Universiteit Amsterdam Amsterdam The Netherlands
- MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom
- Centro Investigación Biomédica en Red de Salud Mental (CIBERSAM) Madrid Spain
- University of British Columbia (CA)
- Sainte Justine Hospital Research Center University of Montreal, Montreal QC Canada
- Corresponding author
- Sønderby, Ida E.
- ORCID
- Sønderby, Ida E.
- Ching, Christopher R. K.
- Thomopoulos, Sophia I.
- Sun, Daqiang
- 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
- 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
- Hashimoto, Ryota
- Hibar, Derrek P.
- Holmes, Avram J.
- Hottenga, Jouke‐Jan
- Jalbrzikowski, Maria
- Kushan, Leila
- Linden, David E. J.
- Liu, Jingyu
- Lundervold, Astri J.
- Martin‐Brevet, Sandra
- Martínez, Kenia
- Mather, Karen A.
- Mathias, Samuel R.
- McDonald‐McGinn, Donna M.
- McRae, Allan F.
- Medland, Sarah E.
- Moberget, Torgeir
- Modenato, Claudia
- Moreau, Clara A.
- Mühleisen, Thomas W.
- Prieto, Carlos
- Ragothaman, Anjanibhargavi
- Reinbold, Céline S.
- Repetto, Gabriela M.
- Reymond, Alexandre
- Roalf, David R.
- Rucker, James J.
- Sachdev, Perminder S.
- Schmitt, James E.
- Schofield, Peter R.
- Silva, Ana I.
- Stein, Dan J.
- Tamnes, Christian K.
- Tordesillas‐Gutiérrez, Diana
- Ulfarsson, Magnus O.
- Vajdi, Ariana
- Vassos, Evangelos
- Vila‐Rodriguez, Fidel
- Walters, G. Bragi
- Wen, Wei
- Westlye, Lars T.
- Wittfeld, Katharina
- Zackai, Elaine H.
- Thompson, Paul M.
- Bearden, Carrie E.
- Andreassen, Ole A.
- Venue
- Human Brain Mapping
- Publisher
- Wiley
- Published
- 2021-02-21
- Volume
- 43
- Issue
- 1
- Pages
- 300-328
- ISSN
- 1065-9471 (ISSN-L)
- 1097-0193
- PMC
- PMC8675420
- OpenAlex
- W3130061971
- Cited by
- 67
- References
- 178
- Citations by year
- 2026: 9 · 2025: 12 · 2024: 21 · 2023: 13 · 2022: 8 · 2021: 4
- FWCI
- 1.73
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Human Brain Mapping (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- VU Research Portal (publishedVersion, other-oa)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (acceptedVersion, other-oa)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (acceptedVersion, other-oa)
- QUT ePrints (Queensland University of Technology) (submittedVersion, cc-by)
- RISalud Institutional Health Repository of Andalucía (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion, other-oa)
- IRIS (submittedVersion, cc-by)
- UCrea (University of Cantabria) (submittedVersion, cc-by)
- Murdoch University Research Portal (submittedVersion)
- NORA - Norwegian Open Research Archives (submittedVersion, cc-by)
- Research Publications (Maastricht University) (submittedVersion, cc-by)
- UCL Discovery (University College London) (submittedVersion)
- Deposito de Investigacion Universidad de Sevilla (University of Seville) (submittedVersion, cc-by-nc-nd)
- Research Portal (King's College London) (submittedVersion, cc-by)
- NORA - Norwegian Open Research Archives (submittedVersion, other-oa)
- DZNE Pub (submittedVersion, other-oa)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- National Institutes of Health (U54 EB020403)
- Norges Forskningsråd (#223273)
- Helse Sør-Øst RHF (#2020060)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- copy number variation, brain structure, 22q11.2 deletion syndrome, 16p11.2, 15q11.2, 1q21.1, gene dosage effect, genotype-phenotype correlation, brain development, psychiatric risk, cognitive characteristics, neurodevelopmental traits, subcortical structures, cortical structure, neuroimaging genetics
- MeSH terms
- Mental Disorders, Brain, Humans, Magnetic Resonance Imaging, Multicenter Studies as Topic, DNA Copy Number Variations, Neuroimaging, Neurodevelopmental Disorders
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