Evidence that duplications of 22q11.2 protect against schizophrenia
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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.
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Microduplications of 22q11.2 appear to confer protection from schizophrenia but have been shown to increase risk for developmental delay and congenital anomalies in pediatric clinical populations.
“For example, microduplications of 22q11.2 appear to confer protection from SCZ 26; however, such duplications have been shown to increase risk for developmental delay and a variety of congenital anomalies in pediatric clinical populations 27.”
From Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2017) · cites this paper as [26]
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- Authors
- Wellcome Trust Case Control Consortium, 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., Moy, W., Göring, H. H. H., Morris, D., Cormican, P., Kendler, K. S., O'Neill, F. A., Riley, B., Gill, M., Corvin, A., Craddock, N., Sklar, P., Hultman, C., Sullivan, P. F., Gejman, P. V., McCarroll, S. A., O'Donovan, M. C., & Owen, M. J.
- Affiliations
- Cardiff University (GB)
- Endeavor Health (US)
- Broad Institute (US)
- National Cancer Institute (US)
- University of North Carolina at Chapel Hill (US)
- University of Southern California (US)
- Stanford Medicine (US)
- Texas Biomedical Research Institute (US)
- Trinity College Dublin (IE)
- Virginia Commonwealth University (US)
- Icahn School of Medicine at Mount Sinai (US)
- Karolinska Institutet (SE)
- Corresponding author
- Owen, M J
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2013-11-12
- Volume
- 19
- Issue
- 1
- Pages
- 37-40
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC3873028
- OpenAlex
- W2032745668
- Cited by
- 183
- References
- 25
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 5 · 2023: 6 · 2022: 13 · 2021: 18 · 2020: 9 · 2019: 10 · 2018: 51 · 2017: 14 · 2016: 13 · 2015: 17 · 2014: 14 · 2012: 1
- FWCI
- 9.73
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Psychiatry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion, cc-by)
- PEARL (University of Plymouth) (submittedVersion, cc-by)
- Research Portal (Queen's University Belfast) (submittedVersion, cc-by)
- Arrow@dit (Dublin Institute of Technology) (submittedVersion, cc-by-nc-sa)
- UNC Libraries
- Funders
- University of Pennsylvania
- Johns Hopkins University (HHSN268200782096C, P01 CA089392)
- Wellcome Trust (085475/Z/08/Z, 085475, 075491, R01MH094091, 072894, 075491/Z/04,, WTCCC2, 090532, 085475/B/08/Z, RC2MH090030, G0801418, 090532/Z/09/Z, 090532/Z/09/, 090532/Z)
- Broad Institute
- British Medical Association
- European Commission (241909)
- Cardiff University (G0800509)
- Science Foundation Ireland (08/IN.1/B1916)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (645-000-003)
- Karolinska Institutet
- Vetenskapsrådet (R01 MH077139)
- National Institutes of Health (075491/Z/04, HHSN268200782096C, CA089392)
- Stanley Center for Psychiatric Research, Broad Institute
- Medical Research Council (G0801418, 090532/Z09/Z, MR/L010305/1, G0800509, HHSN268200782096C)
- National Institute of Mental Health (R01MH041953, R01MH077139, R01MH094091, MH095034, MH-083094, MH41953, U01MH094421, R01MH085548, R01MH083094, K01MH093517, R01MH095034, MH077139, RC2MH090030)
- National Institute on Drug Abuse (P50DA019706)
- National Human Genome Research Institute (U01HG004446, HHSN268200782096C)
- National Eye Institute (R01EY020483)
- National Cancer Institute (P50CA097007, R01CA133996, P01CA089392, P50CA084724, P50CA093459)
- National Institute of Environmental Health Sciences (R01ES011740)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- 22q11.2 duplication, copy number variation, schizophrenia, 22q11.2 deletion, neurodevelopmental disorders, genetic risk
- MeSH terms
- Abnormalities, Multiple, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Female, Humans, Male, Schizophrenia, Genetic Predisposition to Disease, DNA Copy Number Variations, Chromosome Duplication
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