Lancaster EPrints

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

[img]
Preview
PDF (C4_ManuscriptText) - Accepted Version
Available under License Creative Commons Attribution-NonCommercial.

Download (343Kb) | 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.

    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: ?? GENETICS ??
    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: 20 May 2019 01:19
    Identification Number:
    URI: http://eprints.lancs.ac.uk/id/eprint/84623

    Actions (login required)

    View Item