Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

I.E. Sønderby; C.R.K. Ching; S.I. Thomopoulos; D. Meer; D. Sun; J.E. Villalon‐Reina; I. Agartz; K. Amunts; C. Arango; N.J. Armstrong; R. Ayesa‐Arriola; G. Bakker; A.S. Bassett; D.I. Boomsma; R. Bülow; N.J. Butcher; V.D. Calhoun; S. Caspers; E.W.C. Chow; S. Cichon; S. Ciufolini; M.C. Craig; B. Crespo‐Facorro; A.C. Cunningham; A.M. Dale; P. Dazzan; G.I. Zubicaray; S. Djurovic; J.L. Doherty; G. Donohoe; B. Draganski; C.A. Durdle; S. Ehrlich; B.S. Emanuel; T. Espeseth; S.E. Fisher; T. Ge; D.C. Glahn; H.J. Grabe; R.E. Gur; B.A. Gutman; J. Haavik; A.K. Håberg; L.A. Hansen; R. Hashimoto; D.P. Hibar; A.J. Holmes; J‐J Hottenga; H.E. Hulshoff Pol; M. Jalbrzikowski; E.E.M. Knowles; L. Kushan; D.E.J. Linden; J. Liu; A.J. Lundervold; S. Martin‐Brevet; K. Martinez; K.A. Mather; S.R. Mathias; D.M. McDonald‐McGinn; A.F. McRae; S.E. Medland; T. Moberget; C. Modenato; J. Monereo Sánchez; C.A. Moreau; T.W. Mühleisen; T. Paus; Z. Pausova; C. Prieto; A. Ragothaman; C.S. Reinbold; T. Reis Marques; G.M. Repetto; A. Reymond; D.R. Roalf; B. Rodriguez‐Herreros; J.J. Rucker; P.S. Sachdev; J.E. Schmitt; P.R. Schofield; A.I. Silva; H. Stefánsson; D.J. Stein; C.K. Tamnes; D. Tordesillas‐Gutiérrez; M.O. Ulfarsson; A. Vajdi; D. Ent; M.B.M. Bree; E. Vassos; J. Vázquez‐Bourgon; F. Vila‐Rodriguez; G.B. Walters; W. Wen; L.T. Westlye; K. Wittfeld; E.H. Zackai; K. Stefánsson; S. Jacquemont; P.M. Thompson; C.E. Bearden; O.A. Andreassen

doi:10.1002/hbm.25354

Back

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Journal article

Peer reviewed

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

I.E. Sønderby, C.R.K. Ching, S.I. Thomopoulos, D. Meer, D. Sun, J.E. Villalon‐Reina, I. Agartz, K. Amunts, C. Arango, N.J. Armstrong, …

Human Brain Mapping, Vol.43(1), pp.300-328

2022

DOI: https://doi.org/10.1002/hbm.25354

Files and links (1)

url

Free to Read *No subscription requiredView

Abstract

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.

Details

Title: Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs
Authors/Creators: I.E. Sønderby (Author/Creator) - University of Oslo
C.R.K. Ching (Author/Creator) - University of Southern California
S.I. Thomopoulos (Author/Creator) - University of Southern California
D. Meer (Author/Creator)
D. Sun (Author/Creator) - Semel Institute for Neuroscience and Human Behavior
J.E. Villalon‐Reina (Author/Creator)
I. Agartz (Author/Creator) - Karolinska Institutet
K. Amunts (Author/Creator) - Heinrich Heine University Düsseldorf
C. Arango (Author/Creator) - Hospital General Universitario Gregorio Marañón
N.J. Armstrong (Author/Creator) - Murdoch University
R. Ayesa‐Arriola (Author/Creator)
G. Bakker (Author/Creator) - Maastricht University
A.S. Bassett (Author/Creator) - University of Toronto
D.I. Boomsma (Author/Creator) - Public Health Research Institute
R. Bülow (Author/Creator) - Universitätsmedizin Greifswald
N.J. Butcher (Author/Creator) - University of Toronto
V.D. Calhoun (Author/Creator) - Georgia Institute of Technology
S. Caspers (Author/Creator) - Heinrich Heine University Düsseldorf
E.W.C. Chow (Author/Creator) - University of Toronto
S. Cichon (Author/Creator) - University of Basel
S. Ciufolini (Author/Creator) - King's College London
M.C. Craig (Author/Creator) - King's College London
B. Crespo‐Facorro (Author/Creator)
A.C. Cunningham (Author/Creator) - Cardiff University
A.M. Dale (Author/Creator) - University of California San Diego
P. Dazzan (Author/Creator) - King's College London
G.I. Zubicaray (Author/Creator)
S. Djurovic (Author/Creator) - University of Bergen
J.L. Doherty (Author/Creator) - Cardiff University
G. Donohoe (Author/Creator) - Ollscoil na Gaillimhe – University of Galway
B. Draganski (Author/Creator) - Max Planck Society
C.A. Durdle (Author/Creator) - University of California, Davis
S. Ehrlich (Author/Creator) - Technische Universität Dresden
B.S. Emanuel (Author/Creator) - University of Pennsylvania
T. Espeseth (Author/Creator) - University of Oslo
S.E. Fisher (Author/Creator) - Radboud University Nijmegen
T. Ge (Author/Creator) - Harvard University
D.C. Glahn (Author/Creator) - Harvard University
H.J. Grabe (Author/Creator) - Universitätsmedizin Greifswald
R.E. Gur (Author/Creator) - University of Pennsylvania
B.A. Gutman (Author/Creator) - Illinois Institute of Technology
J. Haavik (Author/Creator) - University of Bergen
A.K. Håberg (Author/Creator) - Norwegian University of Science and Technology
L.A. Hansen (Author/Creator) - University of California, Los Angeles
R. Hashimoto (Author/Creator) - The University of Osaka
D.P. Hibar (Author/Creator) - Genentech
A.J. Holmes (Author/Creator) - Yale University
J‐J Hottenga (Author/Creator)
H.E. Hulshoff Pol (Author/Creator)
M. Jalbrzikowski (Author/Creator) - University of Pittsburgh
E.E.M. Knowles (Author/Creator)
L. Kushan (Author/Creator) - Semel Institute for Neuroscience and Human Behavior
D.E.J. Linden (Author/Creator) - Maastricht University
J. Liu (Author/Creator) - Georgia Institute of Technology
A.J. Lundervold (Author/Creator) - University of Bergen
S. Martin‐Brevet (Author/Creator)
K. Martinez (Author/Creator) - Universidad Autónoma de Madrid
K.A. Mather (Author/Creator) - UNSW Sydney
S.R. Mathias (Author/Creator) - Harvard University
D.M. McDonald‐McGinn (Author/Creator)
A.F. McRae (Author/Creator) - The University of Queensland
S.E. Medland (Author/Creator)
T. Moberget (Author/Creator) - University of Oslo
C. Modenato (Author/Creator) - University of Lausanne
J. Monereo Sánchez (Author/Creator)
C.A. Moreau (Author/Creator) - Université de Montréal
T.W. Mühleisen (Author/Creator) - University of Basel
T. Paus (Author/Creator) - University of Toronto
Z. Pausova (Author/Creator)
C. Prieto (Author/Creator) - Universidad de Salamanca
A. Ragothaman (Author/Creator) - Oregon Health & Science University
C.S. Reinbold (Author/Creator) - University of Basel
T. Reis Marques (Author/Creator)
G.M. Repetto (Author/Creator) - Universidad del Desarrollo
A. Reymond (Author/Creator) - University of Lausanne
D.R. Roalf (Author/Creator) - University of Pennsylvania
B. Rodriguez‐Herreros (Author/Creator)
J.J. Rucker (Author/Creator) - King's College London
P.S. Sachdev (Author/Creator) - UNSW Sydney
J.E. Schmitt (Author/Creator) - University of Pennsylvania
P.R. Schofield (Author/Creator) - UNSW Sydney
A.I. Silva (Author/Creator) - Maastricht University
H. Stefánsson (Author/Creator) - deCODE Genetics (Iceland)
D.J. Stein (Author/Creator) - University of Cape Town
C.K. Tamnes (Author/Creator) - University of Oslo
D. Tordesillas‐Gutiérrez (Author/Creator)
M.O. Ulfarsson (Author/Creator) - University of Iceland
A. Vajdi (Author/Creator) - Semel Institute for Neuroscience and Human Behavior
D. Ent (Author/Creator)
M.B.M. Bree (Author/Creator)
E. Vassos (Author/Creator) - King's College London
J. Vázquez‐Bourgon (Author/Creator)
F. Vila‐Rodriguez (Author/Creator)
G.B. Walters (Author/Creator) - University of Iceland
W. Wen (Author/Creator) - UNSW Sydney
L.T. Westlye (Author/Creator) - University of Oslo
K. Wittfeld (Author/Creator) - Universitätsmedizin Greifswald
E.H. Zackai (Author/Creator) - University of Pennsylvania
K. Stefánsson (Author/Creator) - University of Iceland
S. Jacquemont (Author/Creator) - Université de Montréal
P.M. Thompson (Author/Creator) - University of Southern California
C.E. Bearden (Author/Creator) - Semel Institute for Neuroscience and Human Behavior
O.A. Andreassen (Author/Creator) - Oslo University Hospital
Publication Details: Human Brain Mapping, Vol.43(1), pp.300-328
Publisher: Wiley
Identifiers: 991005545354807891
Copyright: © 2021 The Authors.
Murdoch Affiliation: School of Mathematics, Statistics, Chemistry and Physics
Language: English
Resource Type: Journal article

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

Source: InCites

Metrics

29 File views/ downloads

64 Record Views

47 Times Cited - Web of Science

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Collaboration types: Industry collaboration; Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.186 Chromosome Disorders; 1.186.948 Chromosomal Abnormalities
Web Of Science research areas: Neuroimaging; Neurosciences; Radiology, Nuclear Medicine & Medical Imaging
ESI research areas: Neuroscience & Behavior