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Does rare matter? Copy Number Variants at 16p11.2 and the risk of psychosis: A systematic review of literature and metaanalysis.

Strydom, A; Giaroli, G; Bass, N; (2014) Does rare matter? Copy Number Variants at 16p11.2 and the risk of psychosis: A systematic review of literature and metaanalysis. Schizophrenia Research , 159 (2-3) pp. 340-346. 10.1016/j.schres.2014.09.025. Green open access

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Abstract

BACKGROUND: In the last 5 years an increasing number of studies have found that individuals who have micro-duplications at 16p11.2 may have an increased risk of mental disorders including psychotic syndromes. OBJECTIVE: Our main aim was to review all the evidence in the literature for the association between copy number variants (CNVs) at 16p11.2 and psychosis. METHODS: We have conducted a systematic review and a meta-analysis utilising the PRISMA statement criteria. We included all original studies (published in English) which presented data on CNVs at 16p11.2 in patients affected by schizophrenia, schizoaffective disorder or bipolar disorder. RESULTS: We retrieved 15 articles which fulfilled our inclusion criteria. Eleven articles were subsequently selected for a meta-analysis that showed a 10 fold increased risk of psychosis in patients with proximal 16p11.2 duplications. We conducted a second meta-analysis of those studies with low risk of overlap in order to obtain the largest possible sample with the lowest risk of repeated results: 5 studies were selected and we found an odds ratio (OR) of 14.4 (CI=5.2-39.8; p<0.001) for psychosis with proximal 16p11.2 duplications. The results were not significant for micro-deletions in the same region. Finally extracting only those studies that included patients with schizophrenia we found an OR=16.0 (CI=5.4-47.3: p<0.001) CONCLUSIONS: There is a fourteen fold-increased risk of psychosis and a sixteen fold increased risk of schizophrenia in individuals with micro-duplication at proximal 16p11.2.

Type: Article
Title: Does rare matter? Copy Number Variants at 16p11.2 and the risk of psychosis: A systematic review of literature and metaanalysis.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.schres.2014.09.025
Publisher version: http://dx.doi.org/10.1016/j.schres.2014.09.025
Language: English
Additional information: © 2014 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords: CNV, copy number variation, 16p11.2, duplication, psychosis, schizophrenia, bipolar disorders, schizoaffective disorder
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
URI: https://discovery.ucl.ac.uk/id/eprint/1448841
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