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  Effects of eight neuropsychiatric copy number variants on human brain structure

Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., et al. (2021). Effects of eight neuropsychiatric copy number variants on human brain structure. Translational Psychiatry, 11(1): 399. doi:10.1038/s41398-021-01490-9.

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Modenato, Claudia1, Author
Kumar, Kuldeep2, Author
Moreau, Clara2, Author
Martin-Brevet, Sandra1, Author
Huguet, Guillaume2, Author
Schramm, Catherine2, Author
Jean-Louis, Martineau2, Author
Martin, Charles-Olivier2, Author
Younis, Nadine2, Author
Tamer, Petra2, Author
Douard, Elise2, Author
Thébault-Dagher, Fanny2, Author
Côté, Valérie2, Author
Charlebois, Audrey-Rose2, Author
Deguire, Florence2, Author
Maillard, Anne M.3, Author
Rodriguez-Herreros, Borja3, Author
Pain, Aurèlie3, Author
Richetin, Sonia3, Author
16p11.2 European Consortium, Author              
Simons Searchlight Consortium, Author              Melie-Garcia, Lester4, AuthorKushan, Leila5, AuthorSilva, Ana I.6, 7, Authorvan den Bree, Marianne B. M.7, 8, 9, AuthorLinden, David E. J.6, 7, 9, AuthorOwen, Michael J.7, 8, AuthorHall, Jeremy7, 8, 9, AuthorLippé, Sarah2, AuthorChakravarty, Mallar10, AuthorBzdok, Danilo11, 12, AuthorBearden, Carrie E.5, AuthorDraganski, Bogdan1, 13, Author           Jacquemont, Sébastien2, Author more..
1Laboratoire de Recherche en Neuroimagerie (LREN), Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
2University of Montréal, QC, Canada, ou_persistent22              
3Centre cantonal autisme (CCA), Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
4Applied Signal Processing Group, Swiss Federal Institute of Technology, Zurich, Switzerland, ou_persistent22              
5Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA, ou_persistent22              
6School for Mental Health and Neuroscience, Maastricht University, the Netherlands, ou_persistent22              
7MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, United Kingdom, ou_persistent22              
8Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, United Kingdom, ou_persistent22              
9Neuroscience and Mental Health Research Institute, Cardiff University, United Kingdom, ou_persistent22              
10Douglas Research Centre, McGill University, Montréal, QC, Canada, ou_persistent22              
11McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital, McGill University, QC, Canada, ou_persistent22              
12Mila – Quebec Artificial Intelligence Institute, Montréal, QC, Canada, ou_persistent22              
13Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


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 Abstract: 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.


Language(s): eng - English
 Dates: 2021-06-032021-02-122021-06-162021-07-202021-07
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1038/s41398-021-01490-9
PMID: 34285187
PMC: PMC8292542
 Degree: -



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Project name : -
Grant ID : 100202/Z/12/Z
Funding program : -
Funding organization : Health and Care Research Wales
Project name : -
Grant ID : PMPDP3 171331; 32003B_135679; 32003B_159780; 324730_192755 and CRSK-3_190185
Funding program : -
Funding organization : Swiss National Science Foundation
Project name : -
Grant ID : U54EB020403
Funding program : -
Funding organization : National Institutes of Health
Project name : -
Grant ID : R01MH085953, R01MH100900, R03MH105808
Funding program : -
Funding organization : National Institutes of Mental Health

Source 1

Title: Translational Psychiatry
  Abbreviation : Transl Psychiatry
Source Genre: Journal
Publ. Info: Nature Pub. Group
Pages: - Volume / Issue: 11 (1) Sequence Number: 399 Start / End Page: - Identifier: ISSN: 2158-3188
CoNE: https://pure.mpg.de/cone/journals/resource/2158-3188