Genetic copy number variants, cognition and psychosis
| Autor: | Ruud van Winkel, Eugenia Kravariti, Matthias Weisbrod, Jim van Os, Bart P. F. Rutten, Lieuwe de Haan, Vaughan Bell, Behrooz Z. Alizadeh, Katja Schulze, Benedicto Crespo-Facorro, Claudia J. P. Simons, Jurjen J. Luykx, Assen Jablensky, Wiepke Cahn, Conrad Iyegbe, Frederike Schirmbeck, Elvira Bramon, John Powell, Jasmine Harju-Seppänen, Jeremy Hall, Rebecca M. Jones, René S. Kahn, Robin M. Murray, Luba Kalaydjieva, Dan Rujescu, Sonja M C de Zwarte, Marco Picchioni, Johan H. Thygesen, Roel A. Ophoff, Anjali Bhat, Therese van Amelsvoort, Timothea Toulopoulou, Siri Ranlund, Rebecca Muir, Kuang Lin, Diana Prata, Mei-Hua Hall, Ignacio Mata, Muriel Walshe, Stephen M. Lawrie, Karoline Kuchenbaecker, Madiha Shaikh, Eirini Zartaloudi, Isabelle Austin-Zimmerman, Evangelos Vassos, Richard Bruggeman, Agna A. Bartels-Velthuis, Andrew M. McIntosh, Haritz Irizar, Neeltje E.M. van Haren, Marta Di Forti, Andrew McQuillin, Alvaro Diez-Revuelta, Cathryn M. Lewis, Amelia Presman, Stella Calafato, Colm McDonald |
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| Přispěvatelé: | Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Adult Psychiatry, ANS - Complex Trait Genetics, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, Psychiatry, Child and Adolescent Psychiatry / Psychology, University of Groningen, Perceptual and Cognitive Neuroscience (PCN), Toulopoulou, Timothea, RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie, MUMC+: MA Psychiatrie (3), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, RS: MHeNs - R2 - Mental Health, MUMC+: MA Med Staf Spec Psychiatrie (9), MUMC+: Hersen en Zenuw Centrum (3), Medical Research Council (UK), Wellcome Trust, NIHR Biomedical Research Centre (UK), NHS Foundation Trust, University College London, National Institute for Health Research (UK), European Research Council, European Commission, Instituto de Salud Carlos III, Fundació Seny, Fundación Ramón Areces, Fundación Marques de Valdecilla |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
16P11.2
Schizophrenia/genetics endocrine system diseases Ciências Sociais::Psicologia [Domínio/Área Científica] PHENOTYPE Cognition 0302 clinical medicine DEFICITS DUPLICATIONS SCHIZOPHRENIA Medicine Copy-number variation Psychotic Disorders/genetics Psychiatry RISK 0303 health sciences Ciências Médicas::Medicina Clínica [Domínio/Área Científica] Genetic Predisposition to Disease/genetics ASSOCIATION ABILITY 3. Good health Psychiatry and Mental health Schizophrenia Meta-analysis Life Sciences & Biomedicine Clinical psychology Biochemistry & Molecular Biology Psychosis congenital hereditary and neonatal diseases and abnormalities DNA Copy Number Variations VERBAL MEMORY DNA Copy Number Variations/genetics Predictive markers Article 03 medical and health sciences Cellular and Molecular Neuroscience SDG 3 - Good Health and Well-being mental disorders Genetics Humans Genetic Predisposition to Disease Ciências Naturais::Ciências Biológicas [Domínio/Área Científica] Molecular Biology 030304 developmental biology Science & Technology Recall business.industry Neurosciences medicine.disease DELETIONS Psychotic Disorders Endophenotype Neurosciences & Neurology Verbal memory business 030217 neurology & neurosurgery Neuroscience Genome-Wide Association Study |
| Zdroj: | Molecular Psychiatry, 26(9). Nature Publishing Group Molecular psychiatry, 26(9), 5307-5319. Nature Publishing Group Molecular Psychiatry, 26(9), 5307-5319. Nature Publishing Group Molecular Psychiatry Molecular Psychiatry, vol 26, iss 9 Digital.CSIC. Repositorio Institucional del CSIC instname Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP Thygesen, J H, Presman, A, Harju-seppänen, J, Irizar, H, Jones, R, Kuchenbaecker, K, Lin, K, Alizadeh, B Z, Austin-zimmerman, I, Bartels-velthuis, A, Bhat, A, Bruggeman, R, Cahn, W, Calafato, S, Crespo-facorro, B, De Haan, L, De Zwarte, S M C, Di Forti, M, Díez-revuelta, Á, Hall, J, Hall, M, Iyegbe, C, Jablensky, A, Kahn, R, Kalaydjieva, L, Kravariti, E, Lawrie, S, Luykx, J J, Mata, I, Mcdonald, C, Mcintosh, A M, Mcquillin, A, Muir, R, Ophoff, R, Picchioni, M, Prata, D P, Ranlund, S, Rujescu, D, Rutten, B P F, Schulze, K, Shaikh, M, Schirmbeck, F, Simons, C J P, Toulopoulou, T, Van Amelsvoort, T, Van Haren, N, Van Os, J, Van Winkel, R, Vassos, E, Walshe, M, Weisbrod, M, Zartaloudi, E, Bell, V, Powell, J, Lewis, C M, Murray, R M & Bramon, E 2020, ' Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study ', Molecular Psychiatry . https://doi.org/10.1038/s41380-020-0820-7 |
| ISSN: | 1476-5578 1359-4184 |
| DOI: | 10.1038/s41380-020-0820-7 |
| Popis: | 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 This work was supported by the Medical Research Council (G0901310) and the Wellcome Trust (grants 085475/B/08/Z, 085475/Z/08/Z). This study was supported by the NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and University College London and by the NIHR Biomedical Research Centre for Mental Health at the South London and Maudsley NHS Foundation Trust at King’s College London. Further support to EB: Mental Health Research UK’s John Grace QC award, BMA Margaret Temple grants 2016 and 2006, MRC—Korean Health Industry Development Institute Partnering Award (MC_PC_16014), MRC New Investigator Award and a MRC Centenary Award (G0901310), National Institute of Health Research UK post-doctoral fellowship, the Psychiatry Research Trust, the Schizophrenia Research Fund, the Brain and Behaviour Research foundation’s NARSAD Young Investigator Awards 2005, 2008, Wellcome Trust Research Training Fellowship, the NIHR Biomedical Research Centre at UCLH, and the NIHR Biomedical Research Centre for Mental Health at the South London and Maudsley NHS Foundation Trust and Institute of Psychiatry King’s College London. Further support to co-authors: The Brain and Behaviour Research foundation’s (NARSAD’s) Young Investigator Award (Grant 22604, awarded to CI). The BMA Margaret Temple grant 2016 to JT. A 2014 European Research Council Marie Curie award to A Díez-Revuelta. HI has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 747429. A Medical Research Council doctoral studentship to JH-S, IA-Z and AB. A Mental Health Research UK studentship to RM. VB is supported by a Wellcome Trust Seed Award in Science (200589/Z/16/Z). FWO Senior Clinical Fellowship to RvW. The infrastructure for the GROUP consortium is funded through the Geestkracht programme of the Dutch Health Research Council (ZON-MW, grant number 10-000-1001), and matching funds from participating pharmaceutical companies (Lundbeck, AstraZeneca, Eli Lilly, Janssen Cilag) and universities and mental health care organisations (Amsterdam: Academic Psychiatric Centre of the Academic Medical Centre and the mental health institutions: GGZ Ingeest, Arkin, Dijk en Duin, GGZ Rivierduinen, Erasmus Medical Centre, GGZ Noord Holland Noord. Groningen: University Medical Centre Groningen and the mental health institutions: Lentis, GGZ Friesland, GGZ Drenthe, Dimence, Mediant, GGNet Warnsveld, Yulius Dordrecht and Parnassia psycho-medical centre The Hague. Maastricht: Maastricht University Medical Centre and the mental health institutions: GGZ Eindhoven en De Kempen, GGZ Breburg, GGZ Oost-Brabant, Vincent van Gogh voor Geestelijke Gezondheid, Mondriaan, Virenze riagg, Zuyderland GGZ, MET ggz, Universitair Centrum Sint-Jozef Kortenberg, CAPRI University of Antwerp, PC Ziekeren Sint-Truiden, PZ Sancta Maria Sint-Truiden, GGZ Overpelt, OPZ Rekem. Utrecht: University Medical Centre Utrecht and the mental health institutions Altrecht, GGZ Centraal and Delta). The Santander cohort was supported by Instituto de Salud Carlos III (PI020499, PI050427, PI060507), SENY Fundació (CI 2005-0308007), Fundacion Ramón Areces and Fundacion Marqués de Valdecilla (API07/011, API10/13). We thank Valdecilla Biobank for providing the biological PAFIP samples and associated data included in this study and for its help in the technical execution of this work; we also thank IDIVAL Neuroimaging Unit for its help in the acquisition and processing of imaging PAFIP data. |
| Databáze: | OpenAIRE |
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