%0 Journal Article
%A Thygesen, Johan H
%A Presman, Amelia
%A Harju-Seppänen, Jasmine
%A Irizar, Haritz
%A Jones, Rebecca
%A Kuchenbaecker, Karoline
%A Lin, Kuang
%A Alizadeh, Behrooz Z
%A Austin-Zimmerman, Isabelle
%A Bartels-Velthuis, Agna
%A Bhat, Anjali
%A Bruggeman, Richard
%A Cahn, Wiepke
%A Calafato, Stella
%A Crespo-Facorro, Benedicto
%A de Haan, Liewe
%A de-Zwarte, Sonja M C
%A Di-Forti, Marta
%A Diez-Revuelta, Alvaro
%A Hall, Jeremy
%A Hall, Mei-Hua
%A Iyegbe, Conrad
%A Jablensky, Assen
%A Kahn, Rene
%A Kalaydjieva, Luba
%A Kravariti, Eugenia
%A Lawrie, Stephen
%A Luykx, Jurjen J
%A Mata, Igancio
%A McDonald, Colm
%A McIntosh, Andrew M
%A McQuillin, Andrew
%A Muir, Rebecca
%A Ophoff, Roel
%A Picchioni, Marco
%A Prata, Diana P
%A Ranlund, Siri
%A Rujescu, Dan
%A Rutten, Bart P F
%A Schulze, Katja
%A Shaikh, Madiha
%A Schirmbeck, Frederike
%A Simons, Claudia J P
%A Toulopoulou, Timothea
%A van-Amelsvoort, Therese
%A van-Haren, Neeltje
%A van-Os, Jim
%A van-Winkel, Ruud
%A Vassos, Evangelos
%A Walshe, Muriel
%A Weisbrod, Matthias
%A Zartaloudi, Eirini
%A Bell, Vaughan
%A Powell, John
%A Lewis, Cathryn M
%A Murray, Robin M
%A Bramon, Elvira
%T Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.
%D 2020
%U http://hdl.handle.net/10668/16010
%X 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 .
%K Predictive markers
%K Neuroscience
%K Genetics
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