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Analysis of copy number variations at 15 schizophrenia-associated loci
Open accessAbstract
Background: A number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the frequency in individuals with schizophrenia is uncertain. Aims: To determine the contribution of CNVs at 15 schizophrenia-associated loci (a) using a large new data-set of patients with schizophrenia (n= 6882) and controls (n= 6316), and (b) combining our results with those from previous studies. Method: We used Illumina microarrays to analyse our data. Analyses were restricted to 520 766 probes common to all arrays used in the different data-sets. Results: We found higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs. Six were nominally significantly associated (P<0.05) in this new data-set: deletions at 1q21.1,NRXN1, 15q11.2 and 22q11.2 and duplications at 16p11.2 and the Angelman/Prader–Willi Syndrome (AS/PWS) region. All eight AS/PWS duplications in patients were of maternal origin. When combined with published data, 11 of the 15 loci showed highly significant evidence for association with schizophrenia (P<4.1×10−4). Conclusions: We strengthen the support for the majority of the previously implicated CNVs in schizophrenia. About 2.5% of patients with schizophrenia and 0.9% of controls carry a large, detectable CNV at one of these loci. Routine CNV screening may be clinically appropriate given the high rate of known deleterious mutations in the disorder and the comorbidity associated with these heritable mutations.
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“Rees et al. [40] found a significant association between the microdeletion and schizophrenia with the frequency of individuals having schizophrenia and the microdeletion from their study was 0.64 (44/6882).”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [40]
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Lord, C., Brugha, T. S., Charman, T., Cusack, J., Dumas, G., Frazier, T., Jones, E. J. H., Jones, R. M., Pickles, A., State, M. W., et al. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0138-4 · Cited by 1,859
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Metadata
- Authors
- Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., O'Donovan, M. C., Owen, M. J., & Kirov, G.
- Affiliations
- Broad Institute (US)
- Cardiff University (GB)
- Corresponding author
- Kirov, George
- ORCID
- Venue
- British Journal of Psychiatry
- Publisher
- Royal College of Psychiatrists
- Published
- 2014-02
- Volume
- 204
- Issue
- 2
- Pages
- 108-114
- ISSN
- 0007-1250 (ISSN-L)
- 1472-1465
- PMC
- PMC3909838
- OpenAlex
- W2086619421
- Cited by
- 443
- References
- 55
- Citations by year
- 2026: 15 · 2025: 24 · 2024: 29 · 2023: 26 · 2022: 25 · 2021: 39 · 2020: 53 · 2019: 50 · 2018: 38 · 2017: 27 · 2016: 42 · 2015: 42 · 2014: 30
- FWCI
- 25.66
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The British Journal of Psychiatry (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- University of Pennsylvania
- Johns Hopkins University (HHSN268200782096C, P01 CA089392)
- Wellcome Trust (G0801418)
- Broad Institute
- Leverhulme Trust
- British Medical Association
- European Commission (241909)
- Cardiff University (G0800509)
- National Institutes of Health (HHSN268200782096C, CA089392)
- Directorate for Biological Sciences
- Stanley Center for Psychiatric Research, Broad Institute
- Medical Research Council (G0801418, MR/L010305/1, G0800509, HHSN268200782096C)
- Biotechnology and Biological Sciences Research Council
- 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
- copy number variation, schizophrenia, genetic susceptibility, 1q21.1 deletion, NRXN1, 15q11.2, 22q11.2, 16p11.2 duplication, genetic comorbidity
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Chromosome Deletion, Female, Humans, Male, Middle Aged, Prader-Willi Syndrome, Schizophrenia, Case-Control Studies, Angelman Syndrome, Genomic Imprinting, Genetic Predisposition to Disease, Young Adult, Genetic Loci, DNA Copy Number Variations, Genotyping Techniques
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