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    Por favor, use este identificador para citar o enlazar este ítem:https://uvadoc.uva.es/handle/10324/66445

    Título
    Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study
    Autor
    Thygesen, Johan H.
    Presman, Amelia
    Harju-Seppänen, Jasmine
    Irizar, Haritz
    Jones, Rebecca
    Kuchenbaecker, Karoline
    Lin, Kuang
    Alizadeh, Behrooz Z.
    Austin-Zimmerman, Isabelle
    Bartels-Velthuis, Agna
    Bhat, Anjali
    Bruggeman, Richard
    Cahn, Wiepke
    Calafato, Stella
    Crespo-Facorro, Benedicto
    de Haan, Liewe
    de Zwarte, Sonja M. C.
    Di Forti, Marta
    Díez Revuelta, ÁlvaroAutoridad UVA
    Hall, Jeremy
    Hall, Mei-Hua
    Iyegbe, Conrad
    Jablensky, Assen
    Kahn, Rene
    Kalaydjieva, Luba
    Kravariti, Eugenia
    Lawrie, Stephen
    Luykx, Jurjen J.
    Mata, Igancio
    McDonald, Colm
    McIntosh, Andrew M.
    McQuillin, Andrew
    Muir, Rebecca
    Ophoff, Roel
    Picchioni, Marco
    Prata, Diana P.
    Ranlund, Siri
    Rujescu, Dan
    Rutten, Bart P. F.
    Schulze, Katja
    Shaikh, Madiha
    Schirmbeck, Frederike
    Simons, Claudia J. P.
    Toulopoulou, Timothea
    van Amelsvoort, Therese
    van Haren, Neeltje
    van Os, Jim
    van Winkel, Ruud
    Vassos, Evangelos
    Walshe, Muriel
    Weisbrod, Matthias
    Zartaloudi, Eirini
    Bell, Vaughan
    Powell, John
    Lewis, Cathryn M.
    Murray, Robin M.
    Bramon, Elvira
    Año del Documento
    2020
    Editorial
    Nature
    Documento Fuente
    Molecular Psychiatry 26(9):5307-5319
    Resumen
    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.
    ISSN
    1359-4184
    Revisión por pares
    SI
    DOI
    10.1038/s41380-020-0820-7
    Idioma
    spa
    URI
    https://uvadoc.uva.es/handle/10324/66445
    Tipo de versión
    info:eu-repo/semantics/draft
    Derechos
    openAccess
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    • DEP55 - Artículos de revista [206]
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