Evidence that duplications of 22q11.2 protect against schizophrenia

Rees, Elliott, Kirov, George, Sanders, A., Walters, James Tynan Rhys, Chambert, K. D., Shi, J., Szatkiewicz, J., O'Dushlaine, C., Richards, Alexander L., Green, Elaine Karen, Jones, Ian Richard, 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, Sklar, P., Hultman, C., Sullivan, P. F., Gejman, P. V., McCarroll, S. A., O'Donovan, Michael Conlon and Owen, Michael John 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:	13 Mar 2020 15:00
URI:	http://orca.cf.ac.uk/id/eprint/52873

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