Journal Article

DZNE-2020-01213

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png 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. ; Abdellaoui, A. ; Ames, D. ; Amunts, K. ; Andersson, M. ; Armstrong, N. J. ; Bernard, M. ; Blackburn, N. ; Blangero, J. ; Boomsma, D. I. ; Bralten, J. ; Brattbak, H.-R. ; Brodaty, H. ; Brouwer, R. M. ; Bülow, R. ; Calhoun, V. ; Caspers, S. ; Cavalleri, G. ; Chen, C.-H. ; Cichon, S. ; Ciufolini, S. ; Corvin, A. ; Crespo-Facorro, B. ; Curran, J. E. ; Dale, A. M. ; Dalvie, S. ; Dazzan, P. ; de Geus, E. J. C. ; de Zubicaray, G. I. ; de Zwarte, S. M. C. ; Delanty, N. ; den Braber, A. ; Desrivières, S. ; Donohoe, G. ; Draganski, B. ; Ehrlich, S. ; Espeseth, T. ; Fisher, S. E. ; Franke, B. ; Frouin, V. ; Fukunaga, M. ; Gareau, T. ; Glahn, D. C. ; Grabe, H. ; Groenewold, N. A. ; Haavik, J. ; Håberg, A. ; Hashimoto, R. ; Hehir-Kwa, J. Y. ; Heinz, A. ; Hillegers, M. H. J. ; Hoffmann, P. ; Holleran, L. ; Hottenga, J.-J. ; Hulshoff, H. E. ; Ikeda, M. ; Jahanshad, N. ; Jernigan, T. ; Jockwitz, C. ; Johansson, S. ; Jonsdottir, G. A. ; Jönsson, E. G. ; Kahn, R. ; Kaufmann, T. ; Kelly, S. ; Kikuchi, M. ; Knowles, E. E. M. ; Kolskår, K. K. ; Kwok, J. B. ; Hellard, S. L. ; Leu, C. ; Liu, J. ; Lundervold, A. J. ; Lundervold, A. ; Martin, N. G. ; Mather, K. ; Mathias, S. R. ; McCormack, M. ; McMahon, K. L. ; McRae, A. ; Milaneschi, Y. ; Moreau, C. ; Morris, D. ; Mothersill, D. ; Mühleisen, T. W. ; Murray, R. ; Nordvik, J. E. ; Nyberg, L. ; Olde Loohuis, L. M. ; Ophoff, R. ; Paus, T. ; Pausova, Z. ; Penninx, B. ; Peralta, J. M. ; Pike, B. ; Prieto, C. ; Pudas, S. ; Quinlan, E. ; Quintana, D. S. ; Reinbold, C. S. ; Marques, T. R. ; Reymond, A. ; Richard, G. ; Rodriguez-Herreros, B. ; Roiz-Santiañez, R. ; Rokicki, J. ; Rucker, J. ; Sachdev, P. ; Sanders, A.-M. ; Sando, S. B. ; Schmaal, L. ; Schofield, P. R. ; Schork, A. J. ; Schumann, G. ; Shin, J. ; Shumskaya, E. ; Sisodiya, S. ; Steen, V. M. ; Stein, D. J. ; Steinberg, S. ; Strike, L. ; Teumer, A. ; Thalamuthu, A. ; Tordesillas-Gutierrez, D. ; Turner, J. ; Ueland, T. ; Uhlmann, A. ; Ulfarsson, M. O. ; van 't Ent, D. ; van der Meer, D. ; van Haren, N. E. M. ; Vaskinn, A. ; Vassos, E. ; Walters, G. B. ; Wang, Y. ; Wen, W. ; Whelan, C. D. ; Wittfeld, K.DZNE* ; Wright, M. ; Yamamori, H. ; Zayats, T. ; Agartz, I. ; Westlye, L. T. ; Jacquemont, S. ; Djurovic, S. ; Stefánsson, H. ; Stefánsson, K. ; Thompson, P. ; Andreassen, O. A. ; 16p11. 2 European Consortium (Collaboration Author) ; ENIGMA-CNV working group (Collaboration author)

2020
Macmillan London

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Please use a persistent id in citations: doi:10.1038/s41380-018-0118-1

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.

Keyword(s): Adult (MeSH) ; Autism Spectrum Disorder: genetics (MeSH) ; Autistic Disorder: genetics (MeSH) ; Basal Ganglia: pathology (MeSH) ; Brain: pathology (MeSH) ; Chromosome Deletion (MeSH) ; Chromosome Disorders: genetics (MeSH) ; Chromosome Duplication (MeSH) ; Chromosomes, Human, Pair 16: genetics (MeSH) ; DNA Copy Number Variations: genetics (MeSH) ; Databases, Factual (MeSH) ; Female (MeSH) ; Globus Pallidus: pathology (MeSH) ; Humans (MeSH) ; Image Processing, Computer-Assisted: methods (MeSH) ; Intellectual Disability: genetics (MeSH) ; Magnetic Resonance Imaging: methods (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Neurodevelopmental Disorders: genetics (MeSH) ; Organ Size: genetics (MeSH) ; Putamen: pathology (MeSH) ; Schizophrenia: genetics (MeSH)

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Contributing Institute(s):

1. Translational Health Care Research (AG Hoffmann)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2020

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 10 ; JCR ; SCOPUS ; Web of Science Core Collection

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Linked articles:

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Erratum/Correction) Sønderby, I. E. ; Gústafsson, Ó. ; Doan, N. T. ; et al
Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Molecular psychiatry 25(3), 692-695 (2020) [10.1038/s41380-019-0358-8]2020   Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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