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

Sønderby, I.E.; Ching, CRK; Thomopoulos, S.I.; van der Meer, D.; Sun, D.; Villalon-Reina, J.E.; Agartz, I.; Amunts, K.; Arango, C.; Armstrong, N.J.; Ayesa-Arriola, R.; Bakker, G.; Bassett, A.S.; Boomsma, D.I.; Bülow, R.; Butcher, N.J.; Calhoun, V.D.; Caspers, S.; Chow, EWC; Cichon, S.; Ciufolini, S.; Craig, M.C.; Crespo-Facorro, B.; Cunningham, A.C.; Dale, A.M.; Dazzan, P.; de Zubicaray, G.I.; Djurovic, S.; Doherty, J.L.; Donohoe, G.; Draganski, B.; Durdle, C.A.; Ehrlich, S.; Emanuel, B.S.; Espeseth, T.; Fisher, S.E.; Ge, T.; Glahn, D.C.; Grabe, H.J.; Gur, R.E.; Gutman, B.A.; Haavik, J.; Håberg, A.K.; Hansen, L.A.; Hashimoto, R.; Hibar, D.P.; Holmes, A.J.; Hottenga, J.J.; Hulshoff Pol, H.E.; Jalbrzikowski, M.; Knowles, EEM; Kushan, L.; Linden, DEJ; Liu, J.; Lundervold, A.J.; Martin-Brevet, S.; Martínez, K.; Mather, K.A.; Mathias, S.R.; McDonald-McGinn, D.M.; McRae, A.F.; Medland, S.E.; Moberget, T.; Modenato, C.; Monereo Sánchez, J.; Moreau, C.A.; Mühleisen, T.W.; Paus, T.; Pausova, Z.; Prieto, C.; Ragothaman, A.; Reinbold, C.S.; Reis Marques, T.; Repetto, G.M.; Reymond, A.; Roalf, D.R.; Rodriguez-Herreros, B.; Rucker, J.J.; Sachdev, P.S.; Schmitt, J.E.; Schofield, P.R.; Silva, A.I.; Stefansson, H.; Stein, D.J.; Tamnes, C.K.; Tordesillas-Gutiérrez, D.; Ulfarsson, M.O.; Vajdi, A.; van 't Ent, D.; van den Bree, MBM; Vassos, E.; Vázquez-Bourgon, J.; Vila-Rodriguez, F.; Walters, G.B.; Wen, W.; Westlye, L.T.; Wittfeld, K.; Zackai, E.H.; Stefánsson, K.; Jacquemont, S.; Thompson, P.M.; Bearden, C.E.; Andreassen, O.A.

doi:10.1002/hbm.25354

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

Details

Download: 33615640_BIB_5F029CA6DCDE.pdf (4707.28 [Ko])
State: Public
Version: author
License: CC BY 4.0

Serval ID

serval:BIB_5F029CA6DCDE

Type

Article: article from journal or magazin.

Publication sub-type

Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.

Collection

Publications

Institution

UNIL/CHUV

Title

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

Journal

Human brain mapping

Author(s)

Sønderby I.E., Ching CRK, Thomopoulos S.I., van der Meer D., Sun D., Villalon-Reina J.E., Agartz I., Amunts K., Arango C., Armstrong N.J., Ayesa-Arriola R., Bakker G., Bassett A.S., Boomsma D.I., Bülow R., Butcher N.J., Calhoun V.D., Caspers S., Chow EWC, Cichon S., Ciufolini S., Craig M.C., Crespo-Facorro B., Cunningham A.C., Dale A.M., Dazzan P., de Zubicaray G.I., Djurovic S., Doherty J.L., Donohoe G., Draganski B., Durdle C.A., Ehrlich S., Emanuel B.S., Espeseth T., Fisher S.E., Ge T., Glahn D.C., Grabe H.J., Gur R.E., Gutman B.A., Haavik J., Håberg A.K., Hansen L.A., Hashimoto R., Hibar D.P., Holmes A.J., Hottenga J.J., Hulshoff Pol H.E., Jalbrzikowski M., Knowles EEM, Kushan L., Linden DEJ, Liu J., Lundervold A.J., Martin-Brevet S., Martínez K., Mather K.A., Mathias S.R., McDonald-McGinn D.M., McRae A.F., Medland S.E., Moberget T., Modenato C., Monereo Sánchez J., Moreau C.A., Mühleisen T.W., Paus T., Pausova Z., Prieto C., Ragothaman A., Reinbold C.S., Reis Marques T., Repetto G.M., Reymond A., Roalf D.R., Rodriguez-Herreros B., Rucker J.J., Sachdev P.S., Schmitt J.E., Schofield P.R., Silva A.I., Stefansson H., Stein D.J., Tamnes C.K., Tordesillas-Gutiérrez D., Ulfarsson M.O., Vajdi A., van 't Ent D., van den Bree MBM, Vassos E., Vázquez-Bourgon J., Vila-Rodriguez F., Walters G.B., Wen W., Westlye L.T., Wittfeld K., Zackai E.H., Stefánsson K., Jacquemont S., Thompson P.M., Bearden C.E., Andreassen O.A.

Working group(s)

ENIGMA-CNV Working Group, ENIGMA 22q11.2 Deletion Syndrome Working Group

Contributor(s)

Bernard M., Blackburn N.B., Bøen R., de Geus E., de Zwarte SMC, Forti M.D., Frei O., Fukunaga M., Hehir-Kwa J.Y., Hillegers MHJ, Hoffmann P., Homuth G., Jahanshad N., Koops S., Kumar K., Kikuchi M., Le Hellard S., Leu C., Murray R.M., Naerland T., Nyberg L., Ophoff R.A., Pike G.B., Sando S.B., Shin J., Shumskaya E., Sisodiya S.M., Steen V.M., Teumer A., Uhlmann A., Wright M.J., Antshel K.M., Campbell L.E., Crossley N.A., Crowley T.B., Daly E., Fiksinski A.M., Forsyth J.K., Fremont W., Goodrich-Hunsaker N.J., Gudbrandsen M., Jonas R.K., Kates W.R., Lin A., McCabe K.L., Moss H., Murphy D.G., Murphy K.C., Owen M.J., Ruparel K., Simon T.J., van Amelsvoort T., Vorstman JAS

ISSN

1097-0193 (Electronic)

ISSN-L

1065-9471

Publication state

Published

Issued date

01/2022

Peer-reviewed

Oui

Volume

Number

Pages

300-328

Language

english

Notes

Publication types: Journal Article ; Review
Publication Status: ppublish

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.

Keywords

brain structural imaging, copy number variant, diffusion tensor imaging, evolution, genetics-first approach, neurodevelopmental disorders, psychiatric disorders

URN

urn:nbn:ch:serval-BIB_5F029CA6DCDE0

OAI-PMH

oai:serval.unil.ch:BIB_5F029CA6DCDE

DOI

10.1002/hbm.25354

Pubmed

33615640

Web of science

000620229500001

Open Access

Yes