Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.

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Version: Author's accepted manuscript
License: CC BY 4.0
Serval ID
serval:BIB_DDB4A3FF4DEE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.
Journal
Nature human behaviour
Author(s)
Kopal J., Kumar K., Saltoun K., Modenato C., Moreau C.A., Martin-Brevet S., Huguet G., Jean-Louis M., Martin C.O., Saci Z., Younis N., Tamer P., Douard E., Maillard A.M., Rodriguez-Herreros B., Pain A., Richetin S., Kushan L., Silva A.I., van den Bree MBM, Linden DEJ, Owen M.J., Hall J., Lippé S., Draganski B., Sønderby I.E., Andreassen O.A., Glahn D.C., Thompson P.M., Bearden C.E., Jacquemont S., Bzdok D.
ISSN
2397-3374 (Electronic)
ISSN-L
2397-3374
Publication state
Published
Issued date
06/2023
Peer-reviewed
Oui
Volume
7
Number
6
Pages
1001-1017
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts. It remains unknown, for example, how distinct CNVs escalate vulnerability for the same developmental and psychiatric disorders. Here we quantitatively dissect the associations between brain organization and behavioural differentiation across 8 key CNVs. In 534 CNV carriers, we explored CNV-specific brain morphology patterns. CNVs were characteristic of disparate morphological changes involving multiple large-scale networks. We extensively annotated these CNV-associated patterns with ~1,000 lifestyle indicators through the UK Biobank resource. The resulting phenotypic profiles largely overlap and have body-wide implications, including the cardiovascular, endocrine, skeletal and nervous systems. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.
Keywords
Humans, DNA Copy Number Variations/genetics, Brain/diagnostic imaging
Pubmed
Web of science
Create date
13/03/2023 11:46
Last modification date
08/08/2024 6:41
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