Hide metadata

dc.date.accessioned2022-01-28T18:30:46Z
dc.date.available2022-01-28T18:30:46Z
dc.date.created2021-09-19T09:22:14Z
dc.date.issued2022
dc.identifier.citationSønderby, Ida Elken 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. Bulow, 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. Lundervold, Astri J. Haavik, Jan Håberg, Asta Hansen, Laura A. Moberget, Torgeir Sánchez, Jennifer Monereo Reinbold, Céline Sonja Tamnes, Christian Krog Westlye, Lars Tjelta Andreassen, Ole et al., , . 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. 2021
dc.identifier.urihttp://hdl.handle.net/10852/90250
dc.description.abstractThe 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.
dc.languageEN
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleEffects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs
dc.typeJournal article
dc.creator.authorSønderby, Ida Elken
dc.creator.authorChing, Christopher R. K.
dc.creator.authorThomopoulos, Sophia I.
dc.creator.authorvan der Meer, Dennis
dc.creator.authorSun, Daqiang
dc.creator.authorVillalon-Reina, Julio E.
dc.creator.authorAgartz, Ingrid
dc.creator.authorAmunts, Katrin
dc.creator.authorArango, Celso
dc.creator.authorArmstrong, Nicola J.
dc.creator.authorAyesa-Arriola, Rosa
dc.creator.authorBakker, Geor
dc.creator.authorBassett, Anne S.
dc.creator.authorBoomsma, Dorret I.
dc.creator.authorBulow, Robin
dc.creator.authorButcher, Nancy J.
dc.creator.authorCalhoun, Vince D.
dc.creator.authorCaspers, Svenja
dc.creator.authorChow, Eva W. C.
dc.creator.authorCichon, Sven
dc.creator.authorCiufolini, Simone
dc.creator.authorCraig, Michael C.
dc.creator.authorCrespo-Facorro, Benedicto
dc.creator.authorCunningham, Adam C.
dc.creator.authorDale, Anders M.
dc.creator.authorDazzan, Paola
dc.creator.authorde Zubicaray, Greig I.
dc.creator.authorDjurovic, Srdjan
dc.creator.authorDoherty, Joanne L.
dc.creator.authorDonohoe, Gary
dc.creator.authorDraganski, Bogdan
dc.creator.authorDurdle, Courtney A.
dc.creator.authorEhrlich, Stefan
dc.creator.authorEmanuel, Beverly S.
dc.creator.authorEspeseth, Thomas
dc.creator.authorFisher, Simon E.
dc.creator.authorGe, Tian
dc.creator.authorGlahn, David C.
dc.creator.authorGrabe, Hans J.
dc.creator.authorGur, Raquel E.
dc.creator.authorGutman, Boris A.
dc.creator.authorLundervold, Astri J.
dc.creator.authorHaavik, Jan
dc.creator.authorHåberg, Asta
dc.creator.authorHansen, Laura A.
dc.creator.authorMoberget, Torgeir
dc.creator.authorSánchez, Jennifer Monereo
dc.creator.authorReinbold, Céline Sonja
dc.creator.authorTamnes, Christian Krog
dc.creator.authorWestlye, Lars Tjelta
dc.creator.authorAndreassen, Ole
dc.creator.authoret al., ,
cristin.unitcode185,53,10,70
cristin.unitnameNORMENT part UiO
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2
dc.identifier.cristin1935633
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Human Brain Mapping&rft.volume=&rft.spage=&rft.date=2021
dc.identifier.jtitleHuman Brain Mapping
dc.identifier.volume43
dc.identifier.issue1
dc.identifier.startpage300
dc.identifier.endpage328
dc.identifier.doihttps://doi.org/10.1002/hbm.25354
dc.identifier.urnURN:NBN:no-92845
dc.type.documentTidsskriftartikkel
dc.type.peerreviewedPeer reviewed
dc.source.issn1065-9471
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/90250/1/Effects%2Bof%2Bcopy%2Bnumber%2Bvariations%2Bon%2Bbrain%2Bstructure%2Band%2Brisk%2Bfor%2Bpsychiatric%2Billness%253B%2BLarge-scale%2Bstudies%2Bfrom%2Bthe%2BENIGMA%2Bworking%2Bgroups%2Bon%2BCNVs.pdf
dc.type.versionPublishedVersion
dc.relation.projectSKGJ/SKGJ-MED-021
dc.relation.projectHSØ/2020060
dc.relation.projectEC/H2020/847776
dc.relation.projectNFR/223273
dc.relation.projectNFR/288083


Files in this item

Appears in the following Collection

Hide metadata

Attribution 4.0 International
This item's license is: Attribution 4.0 International