| Title: |
Structural and functional brain alterations revealed by neuroimaging in CNV carriers |
| Authors: |
Moreau, Clara; Ching, Christopher Rk; Kumar, Kuldeep; Jacquemont, Sebastien; Bearden, Carrie |
| Contributors: |
Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)); Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité); CHU Sainte Justine Montréal; Centre de recherche de l'Institut universitaire de gériatrie de Montreal (CRIUGM); Université de Montréal (UdeM); Université du Québec à Montréal = University of Québec in Montréal (UQAM); Keck School of Medicine Los Angeles; University of Southern California (USC); Semel Institute for Neuroscience and Human Behavior Los Angeles, Ca; University of California Los Angeles (UCLA); University of California (UC)-University of California (UC); This work was supported by Calcul Quebec (http://www.calculquebec.ca) and Compute Canada (http://www.computecanada.ca), the Brain Canada Multi-Investigator initiative, the Canadian Institutes of Health Research, CIHR_400528, The Institute of Data Valorization (IVADO) through the Canada First Research Excellence Fund, Healthy Brains for Healthy Lives through the Canada First Research Excellence Fund, and the National Institute of Mental Health (grants R01MH085953, R21MH116473, and 9U01MH119736-02).Dr Jacquemont is a recipient of a Canada Research Chair in neurodevelopmental disorders, and a chair from the Jeanne et Jean Louis Levesque Foundation. Kuldeep Kumar was supported by The Institute of Data Valorization (IVADO) Postdoctoral Fellowship program, through the Canada First Research Excellence Fund. CRKC was supported by NIAT32AG058507 and U54EB020403 from the Big Data to Knowledge (BD2K) Program.; We wish to thank Sophia Thomopoulos for her assistance with accessing effect size data from the published ENIGMA studies for Figure 2. We also thank the ENIGMA 22q11.2 Deletion Syndrome Working Group (http://enigma.ini.usc.edu/ongoing/enigma-22q-working-group/) and CNV Working Group members (http://enigma.ini.usc.edu/ongoing/enigma-cnv/) for their contributions to these large-scale collaborative studies. |
| Source: |
ISSN: 0959-437X. |
| Publisher Information: |
CCSD; Elsevier |
| Publication Year: |
2021 |
| Subject Terms: |
[SCCO.NEUR]Cognitive science/Neuroscience; [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health; [SDV.GEN]Life Sciences [q-bio]/Genetics |
| Description: |
International audience ; Copy Number Variants (CNVs) are associated with elevated rates of neuropsychiatric disorders. A 'genetics-first' approach, involving the CNV effects on the brain, irrespective of clinical symptomatology, allows investigation of mechanisms underlying neuropsychiatric disorders in the general population. Recent years have seen an increasing number of larger multisite neuroimaging studies investigating the effect of CNVs on structural and functional brain endophenotypes. Alterations overlap with those found in idiopathic psychiatric conditions but effect sizes are twofold to fivefold larger. Here we review new CNV-associated structural and functional brain alterations and outline the future of neuroimaging genomics research, with particular emphasis on developing new resources for the study of high-risk CNVs and rare genomic variants. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/33812299; PUBMED: 33812299; PUBMEDCENTRAL: PMC8205978 |
| DOI: |
10.1016/j.gde.2021.03.002 |
| Availability: |
https://pasteur.hal.science/pasteur-03500714; https://doi.org/10.1016/j.gde.2021.03.002 |
| Accession Number: |
edsbas.B775F7B3 |
| Database: |
BASE |