Effects of eight neuropsychiatric copy number variants on human brain structure.
Détails
Télécharger: 34285187_BIB_D6D73F89EAB9.pdf (3201.11 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_D6D73F89EAB9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Effects of eight neuropsychiatric copy number variants on human brain structure.
Périodique
Translational psychiatry
Collaborateur⸱rice⸱s
16p11.2 European Consortium, Simons Searchlight Consortium
Contributeur⸱rice⸱s
Addor M.C., Andrieux J., Arveiler B., Baujat G., Sloan-Béna F., Belfiore M., Bonneau D., Bouquillon S., Boute O., Brusco A., Busa T., Caberg J.H., Campion D., Colombert V., Cordier M.P., David A., Debray F.G., Delrue M.A., Doco-Fenzy M., Dunkhase-Heinl U., Edery P., Fagerberg C., Faivre L., Forzano F., Genevieve D., Gérard M., Giachino D., Guichet A., Guillin O., Héron D., Isidor B., Jacquette A., Jaillard S., Journel H., Keren B., Lacombe D., Lebon S., Le Caignec C., Lemaître M.P., Lespinasse J., Mathieu-Dramart M., Mercier S., Mignot C., Missirian C., Petit F., Pilekær Sørensen K., Pinson L., Plessis G., Prieur F., Raymond A., Rooryck-Thambo C., Rossi M., Sanlaville D., Schlott Kristiansen B., Schluth-Bolard C., Till M., Van Haelst M., Van Maldergem L., Alupay H., Aaronson B., Ackerman S., Ankenman K., Anwar A., Atwell C., Bowe A., Beaudet A.L., Benedetti M., Berg J., Berman J., Berry L.N., Bibb A.L., Blaskey L., Brennan J., Brewton C.M., Buckner R., Bukshpun P., Burko J., Cali P., Cerban B., Chang Y., Cheong M., Chow V., Chu Z., Chudnovskaya D., Cornew L., Dale C., Dell J., Dempsey A.G., Deschamps T., Earl R., Edgar J., Elgin J., Olson J.E., Evans Y.L., Findlay A., Fischbach G.D., Fisk C., Fregeau B., Gaetz B., Gaetz L., Garza S., Gerdts J., Glenn O., Gobuty S.E., Golembski R., Greenup M., Heiken K., Hines K., Hinkley L., Jackson F.I., Jenkins J., Jeremy R.J., Johnson K., Kanne S.M., Kessler S., Khan S.Y., Ku M., Kuschner E., Laakman A.L., Lam P., Lasala M.W., Lee H., LaGuerre K., Levy S., Cavanagh A.L., Llorens A.V., Campe K.L., Luks T.L., Marco E.J., Martin S., Martin A.J., Marzano G., Masson C., McGovern K.E., Keehn R.M., Miller D.T., Miller F.K., Moss T.J., Murray R., Nagarajan S.S., Nowell K.P., Owen J., Paal A.M., Packer A., Page P.Z., Paul B.M., Peters A., Peterson D., Poduri A., Pojman N.J., Porche K., Proud M.B., Qasmieh S., Ramocki M.B., Reilly B., Roberts TPL, Shaw D., Sinha T., Smith-Packard B., Gallagher A.S., Swarnakar V., Thieu T., Triantafallou C., Vaughan R., Wakahiro M., Wallace A., Ward T., Wenegrat J., Wolken A.
ISSN
2158-3188 (Electronic)
ISSN-L
2158-3188
Statut éditorial
Publié
Date de publication
20/07/2021
Peer-reviewed
Oui
Volume
11
Numéro
1
Pages
399
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen's d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.
Pubmed
Web of science
Open Access
Oui
Création de la notice
26/07/2021 8:28
Dernière modification de la notice
12/01/2022 7:13