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  Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Sønderby, I. E., Gústafsson, Ó., Doan, N. T., Hibar, D. P., Martin-Brevet, S., Westlye, L. T., et al. (2020). Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Molecular Psychiatry, 25(3), 584-602. doi:10.1038/s41380-018-0118-1.

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Sønderby, Ida Elken1, Author
Gústafsson, Ómar1, Author
Doan, Nhat Trung1, Author
Hibar, Derrek Paul1, Author
Martin-Brevet, Sandra1, Author
Westlye, Lars T.1, Author
Jacquemont, Sébastien1, Author
Djurovic, Srdjan1, Author
Stefánsson, Hreinn1, Author
Stefánsson, Kari1, Author
Thompson, Paul M.1, Author
Andreassen, Ole A.1, Author
Abdellaoui, Abdel1, Author
Ames, David1, Author
Amunts, Katrin1, Author
Andersson, Michael1, Author
Armstrong, Nicola J.1, Author
Bernard, Manon1, Author
Blackburn, Nicholas1, Author
Blangero, John1, Author
Boomsma, Dorret I.1, AuthorBralten, Janita1, AuthorBrattbak, Hans-Richard1, AuthorBrodaty, Henry1, AuthorBrouwer, Rachel M.1, AuthorBülow, Robin1, AuthorCalhoun, Vince1, AuthorCaspers, Svenja1, AuthorCavalleri, Gianpiero1, AuthorChen, Chi-Hua1, AuthorCichon, Sven1, AuthorCiufolini, Simone1, AuthorCorvin, Aiden1, AuthorCrespo-Facorro, Benedicto1, AuthorCurran, Joanne E.1, AuthorDale, Anders M1, AuthorDalvie, Shareefa1, AuthorDazzan, Paola1, Authorde Geus, Eco JC1, Authorde Zubicaray, Greig I.1, Authorde Zwarte, Sonja M.C.1, AuthorDelanty, Norman1, Authorden Braber, Anouk1, AuthorDesrivières, Sylvane1, AuthorDonohoe, Gary1, AuthorDraganski, Bogdan1, 2, Author           Ehrlich, Stefan1, AuthorEspeseth, Thomas1, AuthorFisher, Simone E.1, AuthorFranke, Barbara1, AuthorFrouin, Vincent1, AuthorFukunaga, Masaki1, AuthorGareau, Thomas1, AuthorGlahn, David C.1, AuthorGrabe, Hans1, AuthorGroenewold, Nynke A.1, AuthorHaavik, Jan1, AuthorHåberg, Asta1, AuthorHashimoto, Ryota1, AuthorHehir-Kwa, Jayne Y.1, AuthorHeinz, Andreas1, AuthorHillegers, Manon H.J.1, AuthorHoffmann, Per1, AuthorHolleran, Laurena1, AuthorHottenga, Jouke-Jan1, AuthorHulshoff, Hilleke E.1, AuthorIkeda, Masashi1, AuthorJahanshad, Neda1, AuthorJernigan, Terry1, AuthorJockwitz, Christiane1, AuthorJohansson, Stefan1, AuthorJonsdottir, Gudrun A.1, AuthorJönsson, Erik G.1, AuthorKahn, Rene1, AuthorKaufmann, Tobias1, AuthorKelly, Sinead1, AuthorKikuchi, Masataka1, AuthorKnowles, Emma EM.1, AuthorKolskår, Knut K.1, AuthorKwok, John B.1, AuthorLe Hellard, Stephanie1, AuthorLeu, Costin1, AuthorLiu, Jingyu1, AuthorLundervold, Astri J.1, AuthorLundervold, Arvid1, AuthorMartin, Nicholas G.1, AuthorMather, Karen1, AuthorMathias, Samuel R.1, AuthorMcCormack, Mark1, AuthorMcMahon, Katie L.1, AuthorMcRae, Allan1, AuthorMilaneschi, Yuri1, AuthorMoreau, Clara1, AuthorMorris, Derek1, AuthorMothersill, David1, AuthorMühleisen, Thomas W.1, AuthorMurray, Robin1, AuthorNordvik, Jan E.1, AuthorNyberg, Lars1, AuthorLoohuis, Loes M. Olde1, AuthorOphoff, Roel1, AuthorPaus, Tomas1, AuthorPausova, Zdenka1, AuthorPenninx, Brenda1, AuthorPeralta, Juan M.1, AuthorPike, Bruce1, AuthorPrieto, Carlos1, AuthorPudas, Sara1, AuthorQuinlan, Erin1, AuthorQuintana, Daniel S.1, AuthorReinbold, Céline S.1, AuthorMarques, Tiago Reis1, AuthorReymond, Alexandre1, AuthorRichard, Genevieve1, AuthorRodriguez-Herreros, Borja1, AuthorRoiz-Santiañez, Roberto1, AuthorRucker, James1, AuthorSachdev, Perminder1, AuthorSanders, Anne-Marthe1, AuthorSando, Sigrid B.1, AuthorSchmaal, Lianne1, AuthorSchofield, Peter R.1, AuthorSchork, Andrew J.1, AuthorSchumann, Gunter1, AuthorShin, Jean1, AuthorShumskaya, Elena1, AuthorSisodiya, Sanjay1, AuthorSteen, Vidar M.1, AuthorStein, Dan J.1, AuthorSteinberg, Stacy1, AuthorStrike, Lachlan1, AuthorTeumer, Alexander1, AuthorThalamuthu, Anbu1, AuthorTordesillas-Gutierrez, Diana1, AuthorTurner, Jessica1, AuthorUeland, Torill1, AuthorUhlmann, Anne1, AuthorUlfarsson, Magnus O.1, Authorvan Ent, Dennis 't1, Authorvan der Meer, Dennis1, Authorvan Haren, Neeltje E.M.1, AuthorVaskinn, Anja1, AuthorVassos, Evangelos1, AuthorWalters, G. Bragi1, AuthorWang, Yunpeng1, AuthorWen, Wei1, AuthorWhelan, Christopher D.1, AuthorWittfeld, Katharina1, AuthorWright, Margie1, AuthorYamamori, Hidenaga1, AuthorZayats, Tetyana1, AuthorAgartz, Ingrid1, Author more..
1External Organizations, ou_persistent22              
2Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


Free keywords: -
 Abstract: Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes


Language(s): eng - English
 Dates: 2018-05-022018-02-122018-05-252018-10-032020-03
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/s41380-018-0118-1
PMID: 30283035
Other: Epub 2018
 Degree: -



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Title: Molecular Psychiatry
Source Genre: Journal
Publ. Info: Houndmills, Hampshire, UK : Stockton Press
Pages: - Volume / Issue: 25 (3) Sequence Number: - Start / End Page: 584 - 602 Identifier: ISSN: 1359-4184
CoNE: https://pure.mpg.de/cone/journals/resource/954925619131