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The phenotypic manifestations of rare CNVs in schizophrenia

Merikangas, Alison K., Segurado, Ricardo, Cormican, Paul, Heron, Elizabeth A., Anney, Richard ORCID:, Moore, Susan, Kelleher, Eric, Hargreaves, April, Anderson-Schmidt, Heike, Gill, Michael, Gallagher, Louise and Corvin, Aiden 2014. The phenotypic manifestations of rare CNVs in schizophrenia. Schizophrenia Research 158 (1-3) , pp. 255-260. 10.1016/j.schres.2014.06.016

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There is compelling evidence for the role of copy number variants (CNVs) in schizophrenia susceptibility, and it has been estimated that up to 2-3% of schizophrenia cases may carry rare CNVs. Despite evidence that these events are associated with an increased risk across categorical neurodevelopmental disorders, there is limited understanding of the impact of CNVs on the core features of disorders like schizophrenia. Our objective was to evaluate associations between rare CNVs in differentially brain expressed (BE) genes and the core features and clinical correlates of schizophrenia. The sample included 386 cases of Irish ancestry with a diagnosis of schizophrenia, at least one rare CNV impacting any gene, and a core set of phenotypic measures. Statistically significant associations between deletions in differentially BE genes were found for family history of mental illness (decreased prevalence of all CNVs and deletions, unadjusted and adjusted) and for paternal age (increase in deletions only, unadjusted, among those with later ages at birth of patient). The strong effect of a lack of a family history on BE genes suggests that CNVs may comprise one pathway to schizophrenia, whereas a positive family history could index other genetic mechanisms that increase schizophrenia vulnerability. To our knowledge, this is the first investigation of the association between genome-wide CNVs and risk factors and sub-phenotypic features of schizophrenia beyond cognitive function.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Schizophrenia; CNV; Copy number variation; Paternal age; Family history; Phenotype
Publisher: Elsevier
ISSN: 0920-9964
Date of Acceptance: 14 June 2014
Last Modified: 31 Oct 2022 10:31

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