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, Wellcome Trust Case Control Consortium, 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 journalArticlepeer-review

86 Citations (Scopus)
170 Downloads (Pure)


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
Pages (from-to)37-40
Number of pages4
JournalMolecular Psychiatry
Early online date12 Nov 2013
Publication statusPublished - Jan 2014

ASJC Scopus subject areas

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


Dive into the research topics of 'Evidence that duplications of 22q11.2 protect against schizophrenia'. Together they form a unique fingerprint.

Cite this