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@ARTICLE{Snderby:151631,
author = {Sønderby, Ida E and Gústafsson, Ómar and Doan, Nhat
Trung and Hibar, Derrek P and Martin-Brevet, Sandra and
Abdellaoui, Abdel and Ames, David and Amunts, Katrin and
Andersson, Michael and Armstrong, Nicola J and Bernard,
Manon and Blackburn, Nicholas and Blangero, John and
Boomsma, Dorret I and Bralten, Janita and Brattbak,
Hans-Richard and Brodaty, Henry and Brouwer, Rachel M and
Bülow, Robin and Calhoun, Vince and Caspers, Svenja and
Cavalleri, Gianpiero and Chen, Chi-Hua and Cichon, Sven and
Ciufolini, Simone and Corvin, Aiden and Crespo-Facorro,
Benedicto and Curran, Joanne E and Dale, Anders M and
Dalvie, Shareefa and Dazzan, Paola and de Geus, Eco J C and
de Zubicaray, Greig I and de Zwarte, Sonja M C and Delanty,
Norman and den Braber, Anouk and Desrivières, Sylvane and
Donohoe, Gary and Draganski, Bogdan and Ehrlich, Stefan and
Espeseth, Thomas and Fisher, Simon E and Franke, Barbara and
Frouin, Vincent and Fukunaga, Masaki and Gareau, Thomas and
Glahn, David C and Grabe, Hans and Groenewold, Nynke A and
Haavik, Jan and Håberg, Asta and Hashimoto, Ryota and
Hehir-Kwa, Jayne Y and Heinz, Andreas and Hillegers, Manon H
J and Hoffmann, Per and Holleran, Laurena and Hottenga,
Jouke-Jan and Hulshoff, Hilleke E and Ikeda, Masashi and
Jahanshad, Neda and Jernigan, Terry and Jockwitz, Christiane
and Johansson, Stefan and Jonsdottir, Gudrun A and Jönsson,
Erik G and Kahn, Rene and Kaufmann, Tobias and Kelly, Sinead
and Kikuchi, Masataka and Knowles, Emma E M and Kolskår,
Knut K and Kwok, John B and Hellard, Stephanie Le and Leu,
Costin and Liu, Jingyu and Lundervold, Astri J and
Lundervold, Arvid and Martin, Nicholas G and Mather, Karen
and Mathias, Samuel R and McCormack, Mark and McMahon, Katie
L and McRae, Allan and Milaneschi, Yuri and Moreau, Clara
and Morris, Derek and Mothersill, David and Mühleisen,
Thomas W and Murray, Robin and Nordvik, Jan E and Nyberg,
Lars and Olde Loohuis, Loes M and Ophoff, Roel and Paus,
Tomas and Pausova, Zdenka and Penninx, Brenda and Peralta,
Juan M and Pike, Bruce and Prieto, Carlos and Pudas, Sara
and Quinlan, Erin and Quintana, Daniel S and Reinbold,
Céline S and Marques, Tiago Reis and Reymond, Alexandre and
Richard, Genevieve and Rodriguez-Herreros, Borja and
Roiz-Santiañez, Roberto and Rokicki, Jarek and Rucker,
James and Sachdev, Perminder and Sanders, Anne-Marthe and
Sando, Sigrid B and Schmaal, Lianne and Schofield, Peter R
and Schork, Andrew J and Schumann, Gunter and Shin, Jean and
Shumskaya, Elena and Sisodiya, Sanjay and Steen, Vidar M and
Stein, Dan J and Steinberg, Stacy and Strike, Lachlan and
Teumer, Alexander and Thalamuthu, Anbu and
Tordesillas-Gutierrez, Diana and Turner, Jessica and Ueland,
Torill and Uhlmann, Anne and Ulfarsson, Magnus O and van 't
Ent, Dennis and van der Meer, Dennis and van Haren, Neeltje
E M and Vaskinn, Anja and Vassos, Evangelos and Walters, G
Bragi and Wang, Yunpeng and Wen, Wei and Whelan, Christopher
D and Wittfeld, Katharina and Wright, Margie and Yamamori,
Hidenaga and Zayats, Tetyana and Agartz, Ingrid and Westlye,
Lars T and Jacquemont, Sébastien and Djurovic, Srdjan and
Stefánsson, Hreinn and Stefánsson, Kári and Thompson,
Paul and Andreassen, Ole A},
collaboration = {16p11. 2 European Consortium and ENIGMA-CNV working group},
title = {{D}ose response of the 16p11.2 distal copy number variant
on intracranial volume and basal ganglia.},
journal = {Molecular psychiatry},
volume = {25},
number = {3},
issn = {1476-5578},
address = {London},
publisher = {Macmillan},
reportid = {DZNE-2020-01213},
pages = {584 - 602},
year = {2020},
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.},
keywords = {Adult / Autism Spectrum Disorder: genetics / Autistic
Disorder: genetics / Basal Ganglia: pathology / Brain:
pathology / Chromosome Deletion / Chromosome Disorders:
genetics / Chromosome Duplication / Chromosomes, Human, Pair
16: genetics / DNA Copy Number Variations: genetics /
Databases, Factual / Female / Globus Pallidus: pathology /
Humans / Image Processing, Computer-Assisted: methods /
Intellectual Disability: genetics / Magnetic Resonance
Imaging: methods / Male / Middle Aged / Neurodevelopmental
Disorders: genetics / Organ Size: genetics / Putamen:
pathology / Schizophrenia: genetics},
cin = {AG Hoffmann},
ddc = {610},
cid = {I:(DE-2719)1510600},
pnm = {344 - Clinical and Health Care Research (POF3-344)},
pid = {G:(DE-HGF)POF3-344},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30283035},
pmc = {pmc:PMC7042770},
doi = {10.1038/s41380-018-0118-1},
url = {https://pub.dzne.de/record/151631},
}
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