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.
DOI
10.1038/mp.2013.156
Publication Date
2014-01-01
Publication Title
Molecular Psychiatry
Volume
19
Issue
1
Publisher
Springer Science and Business Media LLC
ISSN
1476-5578
Embargo Period
2024-11-19
First Page
37
Last Page
40
Recommended Citation
Rees, E., Kirov, G., O'Donovan, M., Wellcome Trust Case Control Consortium., & et al. (2014) 'Evidence that duplications of 22q11.2 protect against schizophrenia', Molecular Psychiatry, 19(1), pp. 37-40. Springer Science and Business Media LLC: Available at: https://doi.org/10.1038/mp.2013.156
