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Genetic copy number variants, cognition and psychosis
- Source :
- 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
- Publication Year :
- 2021
- Publisher :
- Nature Publishing Group, 2021.
-
Abstract
- 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<br />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.
- Subjects :
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 14765578 and 13594184
- Volume :
- 26
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Molecular Psychiatry
- Accession number :
- edsair.doi.dedup.....a77aa22bb723acca7995d821851a526a