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

Details

Serval ID
serval:BIB_8D048DECAD90
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Journal
Molecular psychiatry
Author(s)
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 EJC, de Zubicaray G.I., de Zwarte SMC, 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 MHJ, 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 EEM, 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 NEM, Vaskinn A., Vassos E., Walters G.B., Wang Y., Wen W., Whelan C.D., Wittfeld K., Wright M., Yamamori H., Zayats T., Agartz I., Westlye L.T., Jacquemont S., Djurovic S., Stefánsson H., Stefánsson K., Thompson P., Andreassen O.A.
Working group(s)
16p11.2 European Consortium, for the ENIGMA-CNV working group
ISSN
1476-5578 (Electronic)
ISSN-L
1359-4184
Publication state
Published
Issued date
03/2020
Peer-reviewed
Oui
Volume
25
Number
3
Pages
584-602
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
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 <sup>-6</sup> , 1.7 × 10 <sup>-</sup> <sup>9</sup> , 3.5 × 10 <sup>-12</sup> and 1.0 × 10 <sup>-4</sup> , 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.
Pubmed
Web of science
Open Access
Yes
Create date
16/10/2018 11:35
Last modification date
19/09/2020 6:26
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