Evidence that duplications of 22q11.2 protect against schizophrenia

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, M. Pato, G. Genovese, D. Levinson, J. Duan, W. MoyH. H.H. Göring, D. Morris, P. Cormican, K. S. Kendler, F. A. O'Neill, B. Riley, M. Gill, A. Corvin, N. Craddock, P. Sklar, C. Hultman, P. F. Sullivan, P. V. Gejman, S. A. McCarroll, M. C. O'Donovan, M. J. Owen

    Research output: Contribution to journalArticle

    75 Scopus citations


    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.

    Original languageEnglish (US)
    Pages (from-to)37-40
    Number of pages4
    JournalMolecular psychiatry
    Issue number1
    StatePublished - Jan 1 2014


    • 22q11.2
    • CNV
    • duplication
    • protective
    • schizophrenia

    ASJC Scopus subject areas

    • Molecular Biology
    • Psychiatry and Mental health
    • Cellular and Molecular Neuroscience

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  • Cite this

    Rees, E., Kirov, G., Sanders, A., Walters, J. T. R., Chambert, K. D., Shi, J., Szatkiewicz, J., O'Dushlaine, C., Richards, A. L., Green, E. K., Jones, I., Davies, G., Legge, S. E., Moran, J. L., Pato, C., Pato, M., Genovese, G., Levinson, D., Duan, J., ... Owen, M. J. (2014). Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular psychiatry, 19(1), 37-40. https://doi.org/10.1038/mp.2013.156