TY  - JOUR
AU  - Sønderby, Ida E
AU  - Ching, Christopher R K
AU  - Thomopoulos, Sophia I
AU  - van der Meer, Dennis
AU  - Sun, Daqiang
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 I
AU  - Bülow, Robin
AU  - Butcher, Nancy J
AU  - Calhoun, Vince D
AU  - Caspers, Svenja
AU  - Chow, Eva W C
AU  - Cichon, Sven
AU  - Ciufolini, Simone
AU  - Craig, Michael C
AU  - Crespo-Facorro, Benedicto
AU  - Cunningham, Adam C
AU  - Dale, Anders M
AU  - Dazzan, Paola
AU  - de Zubicaray, Greig I
AU  - Djurovic, Srdjan
AU  - Doherty, Joanne L
AU  - Donohoe, Gary
AU  - Draganski, Bogdan
AU  - Durdle, Courtney A
AU  - Ehrlich, Stefan
AU  - Emanuel, Beverly S
AU  - Espeseth, Thomas
AU  - Fisher, Simon E
AU  - Ge, Tian
AU  - Glahn, David C
AU  - Grabe, Hans J
AU  - Gur, Raquel E
AU  - Gutman, Boris A
AU  - Haavik, Jan
AU  - Håberg, Asta K
AU  - Hansen, Laura A
AU  - Hashimoto, Ryota
AU  - Hibar, Derrek P
AU  - Holmes, Avram J
AU  - Hottenga, Jouke-Jan
AU  - Hulshoff Pol, Hilleke E
AU  - Jalbrzikowski, Maria
AU  - Knowles, Emma E M
AU  - Kushan, Leila
AU  - Linden, David E J
AU  - Liu, Jingyu
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 E
AU  - Moberget, Torgeir
AU  - Modenato, Claudia
AU  - Monereo Sánchez, Jennifer
AU  - Moreau, Clara A
AU  - Mühleisen, Thomas W
AU  - Paus, Tomas
AU  - Pausova, Zdenka
AU  - Prieto, Carlos
AU  - Ragothaman, Anjanibhargavi
AU  - Reinbold, Céline S
AU  - Reis Marques, Tiago
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  - Tamnes, Christian K
AU  - Tordesillas-Gutiérrez, Diana
AU  - Ulfarsson, Magnus O
AU  - Vajdi, Ariana
AU  - van 't Ent, Dennis
AU  - van den Bree, Marianne B M
AU  - Vassos, Evangelos
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 M
AU  - Bearden, Carrie E
AU  - Andreassen, Ole A
AU  - Bernard, Manon
AU  - Blackburn, Nicholas B
AU  - Bøen, Rune
AU  - de Geus, Eco
AU  - de Zwarte, Sonja M C
AU  - Forti, Marta Di
AU  - Frei, Oleksandr
AU  - Fukunaga, Masaki
AU  - Hehir-Kwa, Jayne Y
AU  - Hillegers, Manon H J
AU  - Hoffmann, Per
AU  - Homuth, Georg
AU  - Jahanshad, Neda
AU  - Koops, Sanne
AU  - Kumar, Kuldeep
AU  - Kikuchi, Masataka
AU  - Le Hellard, Stephanie
AU  - Leu, Costin
AU  - Murray, Robin M
AU  - Naerland, Terje
AU  - Nyberg, Lars
AU  - Ophoff, Roel A
AU  - Pike, G Bruce
AU  - Sando, Sigrid B
AU  - Shin, Jean
AU  - Shumskaya, Elena
AU  - Sisodiya, Sanjay M
AU  - Steen, Vidar M
AU  - Teumer, Alexander
AU  - Uhlmann, Anne
AU  - Wright, Margaret J
AU  - Antshel, Kevin M
AU  - Campbell, Linda E
AU  - Crossley, Nicolas A
AU  - Crowley, T Blaine
AU  - Daly, Eileen
AU  - Fiksinski, Ania M
AU  - Forsyth, Jennifer K
AU  - Fremont, Wanda
AU  - Goodrich-Hunsaker, Naomi J
AU  - Gudbrandsen, Maria
AU  - Jonas, Rachel K
AU  - Kates, Wendy R
AU  - Lin, Amy
AU  - McCabe, Kathryn L
AU  - Moss, Hayley
AU  - Murphy, Declan G
AU  - Murphy, Kieran C
AU  - Owen, Michael J
AU  - Ruparel, Kosha
AU  - Simon, Tony J
AU  - van Amelsvoort, Therese
AU  - Vorstman, Jacob A S
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  - 1097-0193
CY  - New York, NY
PB  - Wiley-Liss
M1  - DZNE-2021-00799
SP  - 300-328
PY  - 2022
N1  - (CC BY)
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.
KW  - Brain: diagnostic imaging
KW  - Brain: growth & development
KW  - Brain: pathology
KW  - DNA Copy Number Variations
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Mental Disorders: diagnostic imaging
KW  - Mental Disorders: genetics
KW  - Mental Disorders: pathology
KW  - Multicenter Studies as Topic
KW  - Neurodevelopmental Disorders: diagnostic imaging
KW  - Neurodevelopmental Disorders: genetics
KW  - Neurodevelopmental Disorders: pathology
KW  - Neuroimaging
KW  - brain structural imaging (Other)
KW  - copy number variant (Other)
KW  - diffusion tensor imaging (Other)
KW  - evolution (Other)
KW  - genetics-first approach (Other)
KW  - neurodevelopmental disorders (Other)
KW  - psychiatric disorders (Other)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC8675420
C6  - pmid:33615640
DO  - DOI:10.1002/hbm.25354
UR  - https://pub.dzne.de/record/155631
ER  -