Rees, Elliott, Kirov, George, Sanders, A., Walters, James Tynan Rhys, Chambert, K. D., Shi, J., Szatkiewicz, J., O'Dushlaine, C., Richards, Alexander L., Green, Elaine Karen, Jones, Ian Richard, Davies, Geraint, Legge, Sophie E., Moran, J. L., Pato, C., Pato, M., Genovese, G., Levinson, D., Duan, J., Moy, W., Göring, H. H. H., Morris, D., Cormican, P., Kendler, K. S., O'Neill, F. A., Riley, B., Gill, M., Corvin, A., Craddock, Nicholas John, Sklar, P., Hultman, C., Sullivan, P. F., Gejman, P. V., McCarroll, S. A., O'Donovan, Michael Conlon and Owen, Michael John 2013. Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular Psychiatry n/a 10.1038/mp.2013.156 |
|
PDF
- Published Version
Available under License Creative Commons Attribution. Download (896kB) | Preview |
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.
Item Type: | Article |
---|---|
Date Type: | Publication |
Status: | Published |
Schools: | Advanced Research Computing @ Cardiff (ARCCA) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI) |
Subjects: | R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry |
Uncontrolled Keywords: | 22q11.2; CNV; duplication; protective; schizophrenia |
Additional Information: | Online publication date: 12 November 2013. |
Publisher: | Nature Publishing Group |
ISSN: | 1359-4184 |
Funders: | MRC |
Date of First Compliant Deposit: | 30 March 2016 |
Last Modified: | 13 Mar 2020 15:00 |
URI: | http://orca.cf.ac.uk/id/eprint/52873 |
Citation Data
Cited 75 times in Scopus. View in Scopus. Powered By Scopus® Data
Actions (repository staff only)
![]() |
Edit Item |