RT info:eu-repo/semantics/article
T1 Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study
A1 Thygesen, Johan H.
A1 Presman, Amelia
A1 Harju-Seppänen, Jasmine
A1 Irizar, Haritz
A1 Jones, Rebecca
A1 Kuchenbaecker, Karoline
A1 Lin, Kuang
A1 Alizadeh, Behrooz Z.
A1 Austin-Zimmerman, Isabelle
A1 Bartels-Velthuis, Agna
A1 Bhat, Anjali
A1 Bruggeman, Richard
A1 Cahn, Wiepke
A1 Calafato, Stella
A1 Crespo-Facorro, Benedicto
A1 de Haan, Liewe
A1 de Zwarte, Sonja M. C.
A1 Di Forti, Marta
A1 Díez-Revuelta, Álvaro
A1 Hall, Jeremy
A1 Hall, Mei-Hua
A1 Iyegbe, Conrad
A1 Jablensky, Assen
A1 Kahn, Rene
A1 Kalaydjieva, Luba
A1 Kravariti, Eugenia
A1 Lawrie, Stephen
A1 Luykx, Jurjen J.
A1 Mata, Igancio
A1 McDonald, Colm
A1 McIntosh, Andrew M.
A1 McQuillin, Andrew
A1 Muir, Rebecca
A1 Ophoff, Roel
A1 Picchioni, Marco
A1 Prata, Diana P.
A1 Ranlund, Siri
A1 Rujescu, Dan
A1 Rutten, Bart P. F.
A1 Schulze, Katja
A1 Shaikh, Madiha
A1 Schirmbeck, Frederike
A1 Simons, Claudia J. P.
A1 Toulopoulou, Timothea
A1 van Amelsvoort, Therese
A1 van Haren, Neeltje
A1 van Os, Jim
A1 van Winkel, Ruud
A1 Vassos, Evangelos
A1 Walshe, Muriel
A1 Weisbrod, Matthias
A1 Zartaloudi, Eirini
A1 Bell, Vaughan
A1 Powell, John
A1 Lewis, Cathryn M.
A1 Murray, Robin M.
A1 Bramon, Elvira
AB The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.
PB Nature
SN 1359-4184
YR 2020
FD 2020
LK https://uvadoc.uva.es/handle/10324/66445
UL https://uvadoc.uva.es/handle/10324/66445
LA spa
NO Molecular Psychiatry 26(9):5307-5319
DS UVaDOC
RD 18-nov-2024