Rees, Elliott ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
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Abstract
A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5–3.0 Mb) at 22q11.2—the reciprocal of the well-known, risk-inducing deletion of this locus—are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Advanced Research Computing @ Cardiff (ARCCA) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI) |
Subjects: | R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry |
Uncontrolled Keywords: | 22q11.2; CNV; duplication; protective; schizophrenia |
Additional Information: | Online publication date: 12 November 2013. |
Publisher: | Nature Publishing Group |
ISSN: | 1359-4184 |
Funders: | MRC |
Date of First Compliant Deposit: | 30 March 2016 |
Last Modified: | 12 Oct 2023 04:43 |
URI: | https://orca.cardiff.ac.uk/id/eprint/52873 |
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