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  1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Sønderby, I. E., van der Meer, D., Moreau, C., Kaufmann, T., Walters, G. B., Ellegaard, M., et al. (2021). 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. Translational Psychiatry, 11: 182. doi:10.1038/s41398-021-01213-0.

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Sønderby, Ida E., Author
van der Meer, Dennis, Author
Moreau, Clara, Author
Kaufmann, Tobias, Author
Walters, G. Bragi, Author
Ellegaard, Maria, Author
Abdellaoui, Abdel, Author
Ames, David, Author
Amunts, Katrin, Author
Andersson, Micael, Author
Armstrong, Nicola J., Author
Bernard, Manon, Author
Blackburn, Nicholas B., Author
Blangero, John, Author
Boomsma, Dorret I., Author
Brodaty, Henry, Author
Brouwer, Rachel M., Author
Bülow, Robin, Author
Bøen, Rune, Author
Cahn, Wiepke, Author
Calhoun, Vince D., AuthorCaspers, Svenja, AuthorChing, Christopher R. K., AuthorCichon, Sven, AuthorCiufolini, Simone, AuthorCrespo-Facorro, Benedicto, AuthorCurran, Joanne E., AuthorDale, Anders M., AuthorDalvie, Shareefa, AuthorDazzan, Paola, Authorde Geus, Eco J. C., Authorde Zubicaray, Greig I., Authorde Zwarte, Sonja M. C., AuthorDesrivieres, Sylvane, AuthorDoherty, Joanne L., AuthorDonohoe, Gary, AuthorDraganski, Bogdan1, Author              Ehrlich, Stefan, AuthorEising, Else, AuthorEspeseth, Thomas, AuthorFejgin, Kim, AuthorFisher, Simon E., AuthorFladby, Tormod, AuthorFrei, Oleksandr, AuthorFrouin, Vincent, AuthorFukunaga, Masaki, AuthorGareau, Thomas, AuthorGe, Tian, AuthorGlahn, David C., AuthorGrabe, Hans J., AuthorGroenewold, Nynke A., AuthorGústafsson, Ómar, AuthorHaavik, Jan, AuthorHaberg, Asta K., AuthorHall, Jeremy, AuthorHashimoto, Ryota, AuthorHehir-Kwa, Jayne Y., AuthorHibar, Derrek P., AuthorHillegers, Manon H. J., AuthorHoffmann, Per, AuthorHolleran, Laurena, AuthorHolmes, Avram J., AuthorHomuth, Georg, AuthorHottenga, Jouke-Jan, AuthorHulshoff Pol, Hilleke E., AuthorIkeda, Masashi, AuthorJahanshad, Neda, AuthorJockwitz, Christiane, AuthorJohansson, Stefan, AuthorJönsson, Erik G., AuthorJørgensen, Niklas R., AuthorKikuchi, Masataka, AuthorKnowles, Emma E. M., AuthorKumar, Kuldeep, AuthorLe Hellard, Stephanie, AuthorLeu, Costin, AuthorLinden, David E. J., AuthorLiu, Jingyu, AuthorLundervold, Arvid, AuthorLundervold, Astri Johansen, AuthorMaillard, Anne M., AuthorMartin, Nicholas G., AuthorMartin-Brevet, Sandra, AuthorMather, Karen A., AuthorMathias, Samuel R., AuthorMcMahon, Katie L., AuthorMcRae, Allan F., AuthorMedland, Sarah E., AuthorMeyer-Lindenberg, Andreas, AuthorMoberget, Torgeir, AuthorModenato, Claudia, AuthorSánchez, Jennifer Monereo, AuthorMorris, Derek W., AuthorMühleisen, Thomas W., AuthorMurray, Robin M., AuthorNielsen, Jacob, AuthorNordvik, Jan E., AuthorNyberg, Lars, AuthorLoohuis, Loes M. Olde, AuthorOphoff, Roel A., AuthorOwen, Michael J., AuthorPaus, Tomas, AuthorPausova, Zdenka, AuthorPeralta, Juan M., AuthorPike, G. Bruce, AuthorPrieto, Carlos, AuthorQuinlan, Erin B., AuthorReinbold, Céline S., AuthorMarques, Tiago Reis, AuthorRucker, James J. H., AuthorSachdev, Perminder S., AuthorSando, Sigrid B., AuthorSchofield, Peter R., AuthorSchork, Andrew J., AuthorSchumann, Gunter, AuthorShin, Jean, AuthorShumskaya, Elena, AuthorSilva, Ana I., AuthorSisodiya, Sanjay M., AuthorSteen, Vidar M., AuthorStein, Dan J., AuthorStrike, Lachlan T., AuthorSuzuki, Ikuo K., AuthorTamnes, Christian K., AuthorTeumer, Alexander, AuthorThalamuthu, Anbupalam, AuthorTordesillas-Gutiérrez, Diana, AuthorUhlmann, Anne, AuthorUlfarsson, Magnus O., Authorvan ‘t Ent, Dennis, Authorvan den Bree, Marianne B. M., AuthorVanderhaeghen, Pierre, AuthorVassos, Evangelos, AuthorWen, Wei, AuthorWittfeld, Katharina, AuthorWright, Margaret J., AuthorAgartz, Ingrid, AuthorDjurovic, Srdjan, AuthorWestlye, Lars T., AuthorStefansson, Hreinn, AuthorStefansson, Kari, AuthorJacquemont, Sébastien, AuthorThompson, Paul M., AuthorAndreassen, Ole A., Author more..
1Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


Free keywords: -
 Abstract: Low-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.


Language(s): eng - English
 Dates: 2020-12-232020-11-262021-01-082021-03-22
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1038/s41398-021-01213-0
PMID: 33753722
PMC: PMC7985307
 Degree: -



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Title: Translational Psychiatry
  Abbreviation : Transl Psychiatry
Source Genre: Journal
Publ. Info: Nature Pub. Group
Pages: - Volume / Issue: 11 Sequence Number: 182 Start / End Page: - Identifier: ISSN: 2158-3188
CoNE: https://pure.mpg.de/cone/journals/resource/2158-3188