Evidence that duplications of 22q11.2 protect against schizophrenia

Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Sanders, A., Walters, James Tynan Rhys ORCID: https://orcid.org/0000-0002-6980-4053, Chambert, K. D., Shi, J., Szatkiewicz, J., O'Dushlaine, C., Richards, Alexander L., Green, Elaine Karen, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Davies, Geraint, Legge, Sophie E., Moran, J. L., Pato, C., Pato, M., Genovese, G., Levinson, D., Duan, J., Moy, W., Göring, H. H. H., Morris, D., Cormican, P., Kendler, K. S., O'Neill, F. A., Riley, B., Gill, M., Corvin, A., Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Sklar, P., Hultman, C., Sullivan, P. F., Gejman, P. V., McCarroll, S. A., O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2013. Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular Psychiatry n/a 10.1038/mp.2013.156

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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
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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