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CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

Rees, Elliott ORCID:, Walters, James t. R. ORCID:, Chambert, Kimberley D., O'Dushlaine, Colm, Szatkiewicz, Jin, Richards, Alexander L., Georgieva, Lyudmila, Mahoney-Davies, Gerwyn, Legge, Sophie E., Moran, Jennifer L., Genovese, Guilio, Levinson, Douglas, Morris, Derek W., Cormican, Paul, Kendler, Kenneth S., O'Neill, Francis A., Riley, Brian, Gill, Michael, Corvin, Aiden, Sklar, Pamela, Hultman, Christina H., Pato, Carlos, Pato, Michelle, Sullivan, Patrick F., Gejman, Pablo V., McCarroll, Stephen A., O'Donovan, Michael C. ORCID:, Owen, Michael J. ORCID: and Kirov, George ORCID: 2014. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Human Molecular Genetics 23 (6) , pp. 1669-1676. 10.1093/hmg/ddt540

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Large and rare copy number variants (CNVs) at several loci have been shown to increase risk for schizophrenia. Aiming to discover novel susceptibility CNV loci, we analyzed 6882 cases and 11 255 controls genotyped on Illumina arrays, most of which have not been used for this purpose before. We identified genes enriched for rare exonic CNVs among cases, and then attempted to replicate the findings in additional 14 568 cases and 15 274 controls. In a combined analysis of all samples, 12 distinct loci were enriched among cases with nominal levels of significance (P < 0.05); however, none would survive correction for multiple testing. These loci include recurrent deletions at 16p12.1, a locus previously associated with neurodevelopmental disorders (P = 0.0084 in the discovery sample and P = 0.023 in the replication sample). Other plausible candidates include non-recurrent deletions at the glutamate transporter gene SLC1A1, a CNV locus recently suggested to be involved in schizophrenia through linkage analysis, and duplications at 1p36.33 and CGNL1. A burden analysis of large (>500 kb), rare CNVs showed a 1.2% excess in cases after excluding known schizophrenia-associated loci, suggesting that additional susceptibility loci exist. However, even larger samples are required for their discovery.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Advanced Research Computing @ Cardiff (ARCCA)
Neuroscience and Mental Health Research Institute (NMHRI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Additional Information: This is an open access article distributed under the terms of the Creative Commons CC BY license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Publisher: Oxford University Press
ISSN: 0964-6906
Funders: MRC, European Community Seventh Framework Programme, MRC PhD Studentship
Date of First Compliant Deposit: 30 March 2016
Date of Acceptance: 24 October 2013
Last Modified: 12 Oct 2023 04:44

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