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, 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.

doi:10.1038/s41380-018-0118-1

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

Détails

Télécharger: 30283035_BIB_8D048DECAD90.pdf (1456.68 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0

ID Serval

serval:BIB_8D048DECAD90

Type

Article: article d'un périodique ou d'un magazine.

Collection

Publications

Institution

UNIL/CHUV

Titre

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

Périodique

Molecular psychiatry

Auteur⸱e⸱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.

Collaborateur⸱rice⸱s

16p11.2 European Consortium, for the ENIGMA-CNV working group

ISSN

1476-5578 (Electronic)

ISSN-L

1359-4184

Statut éditorial

Publié

Date de publication

03/2020

Peer-reviewed

Oui

Volume

Numéro

Pages

584-602

Langue

anglais

Notes

Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish

Résumé

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.

URN

urn:nbn:ch:serval-BIB_8D048DECAD901

OAI-PMH

oai:serval.unil.ch:BIB_8D048DECAD90

DOI

10.1038/s41380-018-0118-1

Pubmed

30283035

Web of science

000516569700011

Open Access

Oui