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Springer Nature [academic journals on nature.com], Molecular Psychiatry, 1(19), p. 37-40, 2013

DOI: 10.1038/mp.2013.156

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Evidence that duplications of 22q11.2 protect against schizophrenia

Journal article published in 2013 by E. Rees, G. Kirov, A. Sanders, J. T. R. Walters, K. D. Chambert, J. Shi, J. Szatkiewicz, C. O'Dushlaine, A. L. Richards, E. K. Green, I. Jones, G. Davies, S. E. Legge, J. L. Moran, C. Pato and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.