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Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.
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, Álvaro; 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.
Afiliación
  • Thygesen JH; Division of Psychiatry, University College London, London, UK.
  • Presman A; Division of Psychiatry, University College London, London, UK.
  • Harju-Seppänen J; Division of Psychiatry, University College London, London, UK.
  • Irizar H; Division of Psychiatry, University College London, London, UK.
  • Jones R; Division of Psychiatry, University College London, London, UK.
  • Kuchenbaecker K; Division of Psychiatry, University College London, London, UK.
  • Lin K; UCL Genetics Institute, University College London, London, UK.
  • Alizadeh BZ; Institute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
  • Austin-Zimmerman I; Nuffield Department of Population Health, University of Oxford, Oxford, UK.
  • Bartels-Velthuis A; University of Groningen, University Medical Center Groningen, University Center for Psychiatry, Rob Giel Research Center, Groningen, The Netherlands.
  • Bhat A; Department of Epidemiology, University Medical Center Groningen, Groningen, The Netherlands.
  • Bruggeman R; Division of Psychiatry, University College London, London, UK.
  • Cahn W; University of Groningen, University Medical Center Groningen, University Center for Psychiatry, Rob Giel Research Center, Groningen, The Netherlands.
  • Calafato S; Division of Psychiatry, University College London, London, UK.
  • Crespo-Facorro B; University of Groningen, University Medical Center Groningen, University Center for Psychiatry, Rob Giel Research Center, Groningen, The Netherlands.
  • de Haan L; Department of Clinical and Developmental Neuropsychology, University of Groningen, Groningen, The Netherlands.
  • de Zwarte SMC; University Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.
  • Di Forti M; Altrecht, General Mental Health Care, Utrecht, The Netherlands.
  • Díez-Revuelta Á; Division of Psychiatry, University College London, London, UK.
  • Hall J; CIBERSAM, Centro Investigación Biomédica en Red Salud Mental, Sevilla, Spain.
  • Hall MH; University Hospital Marqués de Valdecilla, University of Cantabria-IDIVAL, Santander, Spain.
  • Iyegbe C; Hospital Universitario Virgen del Rocío, IBiS, Department of Psychiatry, School of Medicine, University of Sevilla, Sevilla, Spain.
  • Jablensky A; Amsterdam UMC, Department of Psychiatry, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
  • Kahn R; Arkin, Institute for Mental Health, Amsterdam, The Netherlands.
  • Kalaydjieva L; University Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.
  • Kravariti E; Institute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
  • Lawrie S; Division of Psychiatry, University College London, London, UK.
  • Luykx JJ; Laboratory of Cognitive and Computational Neuroscience-Centre for Biomedical Technology (CTB), Complutense University and Technical University of Madrid, Madrid, Spain.
  • Mata I; School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, UK.
  • McDonald C; Psychosis Neurobiology Laboratory, Harvard Medical School, McLean Hospital, Belmont, MA, USA.
  • McIntosh AM; Institute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
  • McQuillin A; Centre for Clinical Research in Neuropsychiatry, The University of Western Australia, Perth, WA, Australia.
  • Muir R; University Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.
  • Ophoff R; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Picchioni M; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, WA, Australia.
  • Prata DP; Institute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
  • Ranlund S; Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, Scotland, UK.
  • Rujescu D; University Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.
  • Rutten BPF; Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Schulze K; Second opinion outpatient clinic, GGNet Mental Health, Warsnveld, The Netherlands.
  • Shaikh M; CIBERSAM, Centro Investigación Biomédica en Red Salud Mental, Sevilla, Spain.
  • Schirmbeck F; Fundación Argibide, Pamplona, Spain.
  • Simons CJP; The Centre for Neuroimaging & Cognitive Genomics (NICOG) and NCBES Galway Neuroscience Centre, National University of Ireland Galway, Galway, Ireland.
  • Toulopoulou T; Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, Scotland, UK.
  • van Amelsvoort T; Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
  • van Haren N; Division of Psychiatry, University College London, London, UK.
  • van Os J; Division of Psychiatry, University College London, London, UK.
  • van Winkel R; Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
  • Vassos E; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Walshe M; Department of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Mol Psychiatry ; 26(9): 5307-5319, 2021 09.
Article en En | MEDLINE | ID: mdl-32719466
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Psicóticos / Esquizofrenia Tipo de estudio: Systematic_reviews Límite: Humans Idioma: En Revista: Mol Psychiatry Asunto de la revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Psicóticos / Esquizofrenia Tipo de estudio: Systematic_reviews Límite: Humans Idioma: En Revista: Mol Psychiatry Asunto de la revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido