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 journalArticlepeer-review

84 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 2014
Externally publishedYes


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

ASJC Scopus subject areas

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


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

Cite this