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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, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon-Reina, J. E., et al. (2022). Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. Human Brain Mapping, 43(1), 300-328. doi:10.1002/hbm.25354.

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Sønderby, Ida E., Author
Ching, Christopher R. K., Author
Thomopoulos, Sophia I., Author
van der Meer, Dennis, Author
Sun, Daqiang, Author
Villalon-Reina, Julio E., Author
Agartz, Ingrid, Author
Amunts, Katrin, Author
Arango, Celso, Author
Armstrong, Nicola J., Author
Ayesa-Arriola, Rosa, Author
Bakker, Geor, Author
Bassett, Anne S., Author
Boomsma, Dorret I., Author
Bülow, Robin, Author
Butcher, Nancy J., Author
Calhoun, Vince D., Author
Caspers, Svenja, Author
Chow, Eva W. C., Author
Cichon, Sven, Author
Ciufolini, Simone, AuthorCraig, Michael C., AuthorCrespo-Facorro, Benedicto, AuthorCunningham, Adam C., AuthorDale, Anders M., AuthorDazzan, Paola, Authorde Zubicaray, Greig I., AuthorDjurovic, Srdjan, AuthorDoherty, Joanne L., AuthorDonohoe, Gary, AuthorDraganski, Bogdan1, Author           Durdle, Courtney A., AuthorEhrlich, Stefan, AuthorEmanuel, Beverly S., AuthorEspeseth, Thomas, AuthorFisher, Simon E., AuthorGe, Tian, AuthorGlahn, David C., AuthorGrabe, Hans J., AuthorGur, Raquel E., AuthorGutman, Boris A., AuthorHaavik, Jan, AuthorHåberg, Asta K., AuthorHansen, Laura A., AuthorHashimoto, Ryota, AuthorHibar, Derrek P., AuthorHolmes, Avram J., AuthorHottenga, Jouke-Jan, AuthorPol, Hilleke E. Hulshoff, AuthorJalbrzikowski, Maria, AuthorKnowles, Emma E. M., AuthorKushan, Leila, AuthorLinden, David E. J., AuthorLiu, Jingyu, AuthorLundervold, Astri J., AuthorMartin-Brevet, Sandra, AuthorMartínez, Kenia, AuthorMather, Karen A., AuthorMathias, Samuel R., AuthorMcDonald-McGinn, Donna M., AuthorMcRae, Allan F., AuthorMedland, Sarah E., AuthorMoberget, Torgeir, AuthorModenato, Claudia, AuthorSánchez, Jennifer Monereo, AuthorMoreau, Clara A., AuthorMühleisen, Thomas W., AuthorPaus, Tomas, AuthorPausova, Zdenka, AuthorPrieto, Carlos, AuthorRagothaman, Anjanibhargavi, AuthorReinbold, Céline S., AuthorMarques, Tiago Reis, AuthorRepetto, Gabriela M., AuthorReymond, Alexandre, AuthorRoalf, David R., AuthorRodriguez-Herreros, Borja, AuthorRucker, James J., AuthorSachdev, Perminder S., AuthorSchmitt, James E., AuthorSchofield, Peter R., AuthorSilva, Ana I., AuthorStefansson, Hreinn, AuthorStein, Dan J., AuthorTamnes, Christian K., AuthorTordesillas-Gutiérrez, Diana, AuthorUlfarsson, Magnus O., AuthorVajdi, Ariana, Authorvan Ent, Dennis 't, Authorvan den Bree, Marianne B. M., AuthorVassos, Evangelos, AuthorVázquez-Bourgon, Javier, AuthorVila-Rodriguez, Fidel, AuthorWalters, G. Bragi, AuthorWen, Wei, AuthorWestlye, Lars T., AuthorWittfeld, Katharina, AuthorZackai, Elaine H., AuthorStefánsson, Kári, AuthorJacquemont, Sebastien, AuthorThompson, Paul M., AuthorBearden, Carrie E., AuthorAndreassen, Ole A., AuthorENIGMA-CNV Working Group, Author              ENIGMA 22q11.2 Deletion Syndrome Working Group, Author               more..
1Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


Free keywords: Brain structural imaging; Copy number variant; Diffusion tensor imaging; Evolution; Genetics-first approach; Neurodevelopmental disorders; Psychiatric disorders
 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.


Language(s): eng - English
 Dates: 2021-01-072020-08-312021-01-132021-12-162022-01
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1002/hbm.25354
Other: epub 2021
PMID: 33615640
PMC: PMC8675420
 Degree: -



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Project name : -
Grant ID : 847776
Funding program : Horizon 2020
Funding organization : European Union
Project name : -
Grant ID : U54 EB020403
Funding program : -
Funding organization : National Institutes of Health (NIH)
Project name : -
Grant ID : 223273
Funding program : -
Funding organization : Norges Forskningsråd
Project name : -
Grant ID : 2020060
Funding program : -
Funding organization : South-Eastern Norway Regional Health Authority
Project name : -
Grant ID : -
Funding program : -
Funding organization : KG Jebsen Stiftelsen

Source 1

Title: Human Brain Mapping
Source Genre: Journal
Publ. Info: New York : Wiley-Liss
Pages: - Volume / Issue: 43 (1) Sequence Number: - Start / End Page: 300 - 328 Identifier: ISSN: 1065-9471
CoNE: https://pure.mpg.de/cone/journals/resource/954925601686