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

Knight, Jo (2017) Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics, 49. pp. 27-35. ISSN 1061-4036

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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.

Item Type: Journal Article
Journal or Publication Title: Nature Genetics
Additional Information: © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Uncontrolled Keywords: /dk/atira/pure/subjectarea/asjc/1300/1311
Subjects:
Departments: Faculty of Health and Medicine > Medicine
ID Code: 84623
Deposited By: ep_importer_pure
Deposited On: 09 Feb 2017 09:14
Refereed?: Yes
Published?: Published
Last Modified: 18 Jul 2019 01:24
URI: https://eprints.lancs.ac.uk/id/eprint/84623

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