Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
brain structural imaging
copy number variant
diffusion tensor imaging
evolution
genetics-first approach
neurodevelopmental disorders
psychiatric disorders
Journal
Human brain mapping
ISSN: 1097-0193
Titre abrégé: Hum Brain Mapp
Pays: United States
ID NLM: 9419065
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
revised:
07
01
2021
received:
31
08
2020
accepted:
13
01
2021
pubmed:
23
2
2021
medline:
29
3
2022
entrez:
22
2
2021
Statut:
ppublish
Résumé
The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This "genotype-first" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.
Identifiants
pubmed: 33615640
doi: 10.1002/hbm.25354
pmc: PMC8675420
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
300-328Subventions
Organisme : NIMH NIH HHS
ID : RC2 MH089951
Pays : United States
Organisme : Medical Research Council
ID : MR/S003444/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : U01 MH119758
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089995
Pays : United States
Organisme : NIA NIH HHS
ID : T32 AG058507
Pays : United States
Organisme : NIBIB NIH HHS
ID : U54 EB020403
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH120174
Pays : United States
Organisme : NCRR NIH HHS
ID : C06 RR020547
Pays : United States
Organisme : MRF
ID : MRF_C0439
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH119185
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH090553
Pays : United States
Organisme : NIBIB NIH HHS
ID : P41 EB015922
Pays : United States
Organisme : NIDA NIH HHS
ID : U24 DA041147
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH087626
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119736
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119738
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH107108
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH094524
Pays : United States
Organisme : Department of Health
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH085953
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH078111
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH129742
Pays : United States
Organisme : Wellcome Trust
ID : 100,202/Z/12/Z
Pays : United Kingdom
Organisme : NIEHS NIH HHS
ID : K01 ES026840
Pays : United States
Organisme : NIMH NIH HHS
ID : U24 MH068457
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH078143
Pays : United States
Organisme : NIH HHS
ID : U54 EB020403
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH100900
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119737
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : K01 MH112774
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG058464
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH083824
Pays : United States
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : U01 MH101723
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH087636
Pays : United States
Organisme : NICHD NIH HHS
ID : P01 HD070454
Pays : United States
Investigateurs
Manon Bernard
(M)
Nicholas B Blackburn
(NB)
Rune Bøen
(R)
Eco de Geus
(E)
Sonja M C de Zwarte
(SMC)
Marta Di Forti
(MD)
Oleksandr Frei
(O)
Masaki Fukunaga
(M)
Jayne Y Hehir-Kwa
(JY)
Manon H J Hillegers
(MHJ)
Per Hoffmann
(P)
Georg Homuth
(G)
Neda Jahanshad
(N)
Sanne Koops
(S)
Kuldeep Kumar
(K)
Masataka Kikuchi
(M)
Stephanie Le Hellard
(S)
Costin Leu
(C)
Robin M Murray
(RM)
Terje Naerland
(T)
Lars Nyberg
(L)
Roel A Ophoff
(RA)
G Bruce Pike
(GB)
Sigrid B Sando
(SB)
Jean Shin
(J)
Elena Shumskaya
(E)
Sanjay M Sisodiya
(SM)
Vidar M Steen
(VM)
Alexander Teumer
(A)
Anne Uhlmann
(A)
Margaret J Wright
(MJ)
Kevin M Antshel
(KM)
Linda E Campbell
(LE)
Nicolas A Crossley
(NA)
T Blaine Crowley
(TB)
Eileen Daly
(E)
Ania M Fiksinski
(AM)
Jennifer K Forsyth
(JK)
Wanda Fremont
(W)
Naomi J Goodrich-Hunsaker
(NJ)
Maria Gudbrandsen
(M)
Rachel K Jonas
(RK)
Wendy R Kates
(WR)
Amy Lin
(A)
Kathryn L McCabe
(KL)
Hayley Moss
(H)
Declan G Murphy
(DG)
Kieran C Murphy
(KC)
Michael J Owen
(MJ)
Kosha Ruparel
(K)
Tony J Simon
(TJ)
Therese van Amelsvoort
(T)
Jacob A S Vorstman
(JAS)
Informations de copyright
© 2021 The Authors. Human Brain Mapping published by Wiley Periodicals LLC.
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