RT Journal Article
T1 Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
A1 Sønderby, Ida E
A1 Ching, Christopher R K
A1 Thomopoulos, Sophia I
A1 van der Meer, Dennis
A1 Sun, Daqiang
A1 Villalon-Reina, Julio E
A1 Agartz, Ingrid
A1 Amunts, Katrin
A1 Arango, Celso
A1 Armstrong, Nicola J
A1 Ayesa-Arriola, Rosa
A1 Bakker, Geor
A1 Bassett, Anne S
A1 Boomsma, Dorret I
A1 Bülow, Robin
A1 Butcher, Nancy J
A1 Calhoun, Vince D
A1 Caspers, Svenja
A1 Chow, Eva W C
A1 Cichon, Sven
A1 Ciufolini, Simone
A1 Craig, Michael C
A1 Crespo-Facorro, Benedicto
A1 Cunningham, Adam C
A1 Dale, Anders M
A1 Dazzan, Paola
A1 de Zubicaray, Greig I
A1 Djurovic, Srdjan
A1 Doherty, Joanne L
A1 Donohoe, Gary
A1 Draganski, Bogdan
A1 Durdle, Courtney A
A1 Ehrlich, Stefan
A1 Emanuel, Beverly S
A1 Espeseth, Thomas
A1 Fisher, Simon E
A1 Ge, Tian
A1 Glahn, David C
A1 Grabe, Hans J
A1 Gur, Raquel E
A1 Gutman, Boris A
A1 Haavik, Jan
A1 Håberg, Asta K
A1 Hansen, Laura A
A1 Hashimoto, Ryota
A1 Hibar, Derrek P
A1 Holmes, Avram J
A1 Hottenga, Jouke-Jan
A1 Hulshoff Pol, Hilleke E
A1 Jalbrzikowski, Maria
A1 Knowles, Emma E M
A1 Kushan, Leila
A1 Linden, David E J
A1 Liu, Jingyu
A1 Lundervold, Astri J
A1 Martin-Brevet, Sandra
A1 Martínez, Kenia
A1 Mather, Karen A
A1 Mathias, Samuel R
A1 McDonald-McGinn, Donna M
A1 McRae, Allan F
A1 Medland, Sarah E
A1 Moberget, Torgeir
A1 Modenato, Claudia
A1 Monereo Sánchez, Jennifer
A1 Moreau, Clara A
A1 Mühleisen, Thomas W
A1 Paus, Tomas
A1 Pausova, Zdenka
A1 Prieto, Carlos
A1 Ragothaman, Anjanibhargavi
A1 Reinbold, Céline S
A1 Reis Marques, Tiago
A1 Repetto, Gabriela M
A1 Reymond, Alexandre
A1 Roalf, David R
A1 Rodriguez-Herreros, Borja
A1 Rucker, James J
A1 Sachdev, Perminder S
A1 Schmitt, James E
A1 Schofield, Peter R
A1 Silva, Ana I
A1 Stefansson, Hreinn
A1 Stein, Dan J
A1 Tamnes, Christian K
A1 Tordesillas-Gutiérrez, Diana
A1 Ulfarsson, Magnus O
A1 Vajdi, Ariana
A1 van 't Ent, Dennis
A1 van den Bree, Marianne B M
A1 Vassos, Evangelos
A1 Vázquez-Bourgon, Javier
A1 Vila-Rodriguez, Fidel
A1 Walters, G Bragi
A1 Wen, Wei
A1 Westlye, Lars T
A1 Wittfeld, Katharina
A1 Zackai, Elaine H
A1 Stefánsson, Kári
A1 Jacquemont, Sebastien
A1 Thompson, Paul M
A1 Bearden, Carrie E
A1 Andreassen, Ole A
A1 ENIGMA-CNV Working Group, 
A1 ENIGMA 22q11.2 Deletion Syndrome Working Group, 
K1 brain structural imaging
K1 copy number variant
K1 diffusion tensor imaging
K1 evolution
K1 genetics-first approach
K1 neurodevelopmental disorders
K1 psychiatric disorders
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.
YR 2021
FD 2021-02-21
LK http://hdl.handle.net/10668/17215
UL http://hdl.handle.net/10668/17215
LA en
DS RISalud
RD Apr 11, 2025