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dc.contributor.authorSønderby, Ida Elken
dc.contributor.authorvan der Meer, Dennis
dc.contributor.authorMoreau, Clara
dc.contributor.authorKaufmann, Tobias
dc.contributor.authorWalters, G. Bragi
dc.contributor.authorEllegaard, Maria
dc.contributor.authorAbdellaoui, Abdel
dc.contributor.authorAmes, David
dc.contributor.authorAmunts, Katrin
dc.contributor.authorAndersson, Micael
dc.contributor.authorArmstrong, Nicola J.
dc.contributor.authorBernard, Manon
dc.contributor.authorBlackburn, Nicholas B.
dc.contributor.authorBlangero, John
dc.contributor.authorBoomsma, Dorret I.
dc.contributor.authorBrodaty, Henry
dc.contributor.authorBrouwer, Rachel M.
dc.contributor.authorBülow, Robin
dc.contributor.authorBøen, Rune
dc.contributor.authorCahn, Wiepke
dc.contributor.authorCalhoun, Vince D.
dc.contributor.authorCaspers, Svenja
dc.contributor.authorChing, Christopher R. K.
dc.contributor.authorCichon, Sven
dc.contributor.authorCiufolini, Simone
dc.contributor.authorCrespo-Facorro, Benedicto
dc.contributor.authorCurran, Joanne E.
dc.contributor.authorDale, Anders M.
dc.contributor.authorDalvie, Shareefa
dc.contributor.authorDazzan, Paola
dc.contributor.authorde Geus, Eco J. C.
dc.contributor.authorZubicaray, Greig I. de
dc.contributor.authorZwarte, Sonja M. C. de
dc.contributor.authorDesrivieres, Sylvane
dc.contributor.authorDoherty, Joanne L.
dc.contributor.authorDonohoe, Gary
dc.contributor.authorDraganski, Bogdan
dc.contributor.authorEhrlich, Stefan
dc.contributor.authorEising, Else
dc.contributor.authorEspeseth, Thomas
dc.contributor.authorFejgin, Kim
dc.contributor.authorFisher, Simon E.
dc.contributor.authorFladby, Tormod
dc.contributor.authorFrei, Oleksandr
dc.contributor.authorFrouin, Vincent
dc.contributor.authorFukunaga, Masaki
dc.contributor.authorGareau, Thomas
dc.contributor.authorGe, Tian
dc.contributor.authorGlahn, David C.
dc.contributor.authorGrabe, Hans J.
dc.contributor.authorGroenewold, Nynke A.
dc.contributor.authorGustafsson, Omar
dc.contributor.authorHaavik, Jan
dc.contributor.authorHaberg, Asta Kristine
dc.contributor.authorHall, Jeremy
dc.contributor.authorHashimoto, Ryota
dc.contributor.authorHehir-Kwa, Jayne Y.
dc.contributor.authorHibar, Derrek P.
dc.contributor.authorHillegers, Manon H. J.
dc.contributor.authorHoffmann, Per
dc.contributor.authorHolleran, Laurena
dc.contributor.authorHolmes, Avram J.
dc.contributor.authorJohansson, Stefan
dc.contributor.authorJönsson, Erik Gunnar
dc.contributor.authorHellard, Stephanie Francoise Claire Le
dc.contributor.authorLundervold, Arvid
dc.contributor.authorLundervold, Astri J.
dc.contributor.authorMoberget, Torgeir
dc.contributor.authorNordvik, Jan Egil
dc.contributor.authorSando, Sigrid Botne
dc.contributor.authorSteen, Vidar Martin
dc.contributor.authorTamnes, Christian Krog
dc.contributor.authorAgartz, Ingrid
dc.contributor.authorDjurovic, Srdjan
dc.contributor.authorWestlye, Lars Tjelta
dc.contributor.authorAndreassen, Ole
dc.date.accessioned2021-09-16T07:22:52Z
dc.date.available2021-09-16T07:22:52Z
dc.date.created2021-08-21T10:26:11Z
dc.date.issued2021
dc.identifier.issn2158-3188
dc.identifier.urihttps://hdl.handle.net/11250/2778458
dc.description.abstractLow-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.en_US
dc.language.isoengen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.title1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humansen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionpublishedVersionen_US
dc.source.journalTranslational Psychiatryen_US
dc.identifier.doi10.1038/s41398-021-01213-0
dc.identifier.cristin1927806
dc.relation.projectNorges forskningsråd: 288083en_US
dc.relation.projectNorges forskningsråd: 223273en_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1


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Navngivelse 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse 4.0 Internasjonal