UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

CNV and Schizophrenia Working Groups of the Psychiatric Genomics, ; (2016) Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics , 2017 (49) pp. 27-35. 10.1038/ng.3725. Green open access

[img]
Preview
Text
Bramon_Sebat-Bramon%20CNVs%20schiz%20PGC.pdf - ["content_typename_Accepted version" not defined]

Download (609kB) | Preview

Abstract

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10−15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10−6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10−11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10−5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

Type: Article
Title: Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ng.3725
Publisher version: http://doi.org/10.1038/ng.3725
Language: English
Additional information: Copyright © 2016 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. The final publication is available at Nature Genetics via http://dx.doi.org/10.1038/ng.3725.
Keywords: Genetics research; Genomics; Schizophrenia
UCL classification: UCL > Provost and Vice Provost Offices
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 Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: http://discovery.ucl.ac.uk/id/eprint/1529803
Downloads since deposit
37Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item