TY  - JOUR
AU  - Sønderby, Ida E.
AU  - Ching, Christopher RK
AU  - Thomopoulos, Sophia I
AU  - van der Meer, Dennis
AU  - Villalon-Reina, Julio E.
AU  - Agartz, Ingrid
AU  - Amunts, Katrin
AU  - Arango, Celso
AU  - Armstrong, Nicola J
AU  - Ayesa-Arriola, Rosa
AU  - Bakker, Geor
AU  - Bassett, Anne S
AU  - Boomsma, Dorret
AU  - Bülow, Robin
AU  - Butcher, Nancy J.
AU  - Calhoun, Vince D
AU  - Caspers, Svenja
AU  - Chow, Eva WC
AU  - Cichon, Sven
AU  - Ciufolini, Simone
AU  - Craig, Michael
AU  - Crespo-Facorro, Benedicto
AU  - Cunningham, Adam
AU  - Dale, Anders M
AU  - Dazzan, Paola
AU  - de Zubicaray, Greig Ian
AU  - Djurovic, Srdjan
AU  - Doherty, Joanne L
AU  - Donohoe, Gary
AU  - Draganski, Bogdan
AU  - Durdle, Courtney
AU  - Ehrlich, Stefan
AU  - Emanuel, Beverly S
AU  - Espeseth, Thomas
AU  - Fisher, Simon
AU  - Gan, Tian
AU  - Glahn, David C.
AU  - Grabe, Hans J.
AU  - Gur, Raquel E.
AU  - Gutman, Boris A
AU  - Haakvik, Jan
AU  - Håberg, Asta
AU  - Hansen, Laura A
AU  - Hashimoto, Ryota
AU  - Hibar, Derrek P.
AU  - Holmes, Avram J
AU  - Hottenga, Jouke-Jan
AU  - Pol, Hilleke E. Hulshoff
AU  - Jalbrzikowski, Maria
AU  - Knowles, Emma EM
AU  - Kushan, Leila
AU  - Linden, David
AU  - Lundervold, Astri J.
AU  - Martin-Brevet, Sandra
AU  - Martínez, Kenia
AU  - Mather, Karen A
AU  - Mathias, Samuel R.
AU  - McDonald-McGinn, Donna M
AU  - McRae, Allan F
AU  - Medland, Sarah
AU  - Moberget, Torgeir
AU  - Modenato, Claudia
AU  - Sánchez, Jennifer Monereo
AU  - Moreau, Clara
AU  - Mühleisen, Thomas W
AU  - Paus, Tomáš
AU  - Pausova, Zdenka
AU  - Prieto, Carlos
AU  - Ragothaman, Anjanibhargavi
AU  - Reinbold, Céline S
AU  - Marques, Tiago Reis
AU  - Repetto, Gabriela M
AU  - Reymond, Alexandre
AU  - Roalf, David R
AU  - Rodriguez-Herreros, Borja
AU  - Rucker, James J
AU  - Sachdev, Perminder S
AU  - Schmitt, James E
AU  - Schofield, Peter R
AU  - Silva, Ana I
AU  - Stefansson, Hreinn
AU  - Stein, Dan J.
AU  - Sun, Daqiang
AU  - Tamnes, Christian K.
AU  - Tordesillas-Gutiérrez, Diana
AU  - Ulfarsson, Magnus O
AU  - Vajdi, Ariana
AU  - van 't Ent, Dennis
AU  - van den Bree, Marianne BM
AU  - Vázquez-Bourgon, Javier
AU  - Vila-Rodriguez, fidel
AU  - Walters, G. Bragi
AU  - Wen, Wei
AU  - Westlye, Lars T.
AU  - Wittfeld, Katharina
AU  - Zackai, Elaine H
AU  - Stefánsson, Kári
AU  - Jacquemont, Sebastien
AU  - Thompson, Paul
AU  - Bearden, Carrie E.
AU  - Andreassen, Ole A.
TI  - Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs
JO  - Human brain mapping
VL  - 43
IS  - 1
SN  - 1065-9471
CY  - New York, NY
PB  - Wiley-Liss
M1  - FZJ-2021-03685
SP  - 300-328
PY  - 2021
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:33615640
UR  - <Go to ISI:>//WOS:000620229500001
DO  - DOI:10.1002/hbm.25354
UR  - https://juser.fz-juelich.de/record/897223
ER  -