RT Journal Article
T1 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
A1 Sønderby, Ida E
A1 van der Meer, Dennis
A1 Moreau, Clara
A1 Kaufmann, Tobias
A1 Walters, G Bragi
A1 Ellegaard, Maria
A1 Abdellaoui, Abdel
A1 Ames, David
A1 Amunts, Katrin
A1 Andersson, Micael
A1 Armstrong, Nicola J
A1 Bernard, Manon
A1 Blackburn, Nicholas B
A1 Blangero, John
A1 Boomsma, Dorret I
A1 Brodaty, Henry
A1 Brouwer, Rachel M
A1 Bülow, Robin
A1 Bøen, Rune
A1 Cahn, Wiepke
A1 Calhoun, Vince D
A1 Caspers, Svenja
A1 Ching, Christopher R K
A1 Cichon, Sven
A1 Ciufolini, Simone
A1 Crespo-Facorro, Benedicto
A1 Curran, Joanne E
A1 Dale, Anders M
A1 Dalvie, Shareefa
A1 Dazzan, Paola
A1 de-Geus, Eco J C
A1 de-Zubicaray, Greig I
A1 de-Zwarte, Sonja M C
A1 Desrivieres, Sylvane
A1 Doherty, Joanne L
A1 Donohoe, Gary
A1 Draganski, Bogdan
A1 Ehrlich, Stefan
A1 Eising, Else
A1 Espeseth, Thomas
A1 Fejgin, Kim
A1 Fisher, Simon E
A1 Fladby, Tormod
A1 Frei, Oleksandr
A1 Frouin, Vincent
A1 Fukunaga, Masaki
A1 Gareau, Thomas
A1 Ge, Tian
A1 Glahn, David C
A1 Grabe, Hans J
A1 Groenewold, Nynke A
A1 Gustafsson, Omar
A1 Haavik, Jan
A1 Haberg, Asta K
A1 Hall, Jeremy
A1 Hashimoto, Ryota
A1 Hehir-Kwa, Jayne Y
A1 Hibar, Derrek P
A1 Hillegers, Manon H J
A1 Hoffmann, Per
A1 Holleran, Laurena
A1 Holmes, Avram J
A1 Homuth, Georg
A1 Hottenga, Jouke-Jan
A1 Hulshoff-Pol, Hilleke E
A1 Ikeda, Masashi
A1 Jahanshad, Neda
A1 Jockwitz, Christiane
A1 Johansson, Stefan
A1 Jönsson, Erik G
A1 Jørgensen, Niklas R
A1 Kikuchi, Masataka
A1 Knowles, Emma E M
A1 Kumar, Kuldeep
A1 Le-Hellard, Stephanie
A1 Leu, Costin
A1 Linden, David E J
A1 Liu, Jingyu
A1 Lundervold, Arvid
A1 Lundervold, Astri Johansen
A1 Maillard, Anne M
A1 Martin, Nicholas G
A1 Martin-Brevet, Sandra
A1 Mather, Karen A
A1 Mathias, Samuel R
A1 McMahon, Katie L
A1 McRae, Allan F
A1 Medland, Sarah E
A1 Meyer-Lindenberg, Andreas
A1 Moberget, Torgeir
A1 Modenato, Claudia
A1 Monereo-Sanchez, Jennifer
A1 Morris, Derek W
A1 Mühleisen, Thomas W
A1 Murray, Robin M
A1 Nielsen, Jacob
A1 Nordvik, Jan E
A1 Nyberg, Lars
A1 Loohuis, Loes M Olde
A1 Ophoff, Roel A
A1 Owen, Michael J
A1 Paus, Tomas
A1 Pausova, Zdenka
A1 Peralta, Juan M
A1 Pike, G Bruce
A1 Prieto, Carlos
A1 Quinlan, Erin B
A1 Reinbold, Celine S
A1 Marques, Tiago Reis
A1 Rucker, James J H
A1 Sachdev, Perminder S
A1 Sando, Sigrid B
A1 Schofield, Peter R
A1 Schork, Andrew J
A1 Schumann, Gunter
A1 Shin, Jean
A1 Shumskaya, Elena
A1 Silva, Ana I
A1 Sisodiya, Sanjay M
A1 Steen, Vidar M
A1 Stein, Dan J
A1 Strike, Lachlan T
A1 Suzuki, Ikuo K
A1 Tamnes, Christian K
A1 Teumer, Alexander
A1 Thalamuthu, Anbupalam
A1 Tordesillas-Gutierrez, Diana
A1 Uhlmann, Anne
A1 Ulfarsson, Magnus O
A1 van 't Ent, Dennis
A1 van-den-Bree, Marianne B M
A1 Vanderhaeghen, Pierre
A1 Vassos, Evangelos
A1 Wen, Wei
A1 Wittfeld, Katharina
A1 Wright, Margaret J
A1 Agartz, Ingrid
A1 Djurovic, Srdjan
A1 Westlye, Lars T
A1 Stefansson, Hreinn
A1 Stefansson, Kari
A1 Jacquemont, Sébastien
A1 Thompson, Paul M
A1 Andreassen, Ole A
K1 Psychiatric disorders
K1 Molecular neuroscience
K1 Clinical genetics
AB Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
PB Nature Publishing Group
YR 2021
FD 2021-03-22
LK http://hdl.handle.net/10668/17384
UL http://hdl.handle.net/10668/17384
LA en
NO Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M,et al. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. Transl Psychiatry. 2021 Mar 22;11(1):182.
DS RISalud
RD Apr 17, 2025