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The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
Open accessAbstract
BACKGROUND: Several recurrent copy number variants (CNVs) have been shown to increase the risk of developing schizophrenia (SCZ), developmental delay (DD), autism spectrum disorders (ASD), and various congenital malformations (CM). Their penetrance for SCZ has been estimated to be modest. However, comparisons between their penetrance for SCZ or DD/ASD/CM, or estimates of the total penetrance for any of these disorders have not yet been made. METHODS: We use data from the largest available studies on SCZ and DD/ASD/CM, including a new sample of 6882 cases and 6316 controls, to estimate the frequencies of 70 implicated CNVs in carriers with these disorders, healthy control subjects, and the general population. On the basis of these frequencies, we estimate their penetrance. We also estimate the strength of the selection pressure against CNVs and correlate this against their overall penetrance. RESULTS: The rates of nearly all CNVs are higher in DD/ASD/CM compared with SCZ. The penetrance of CNVs is at least several times higher for the development of a disorder from the group of DD/ASD/CM. The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100%. CONCLUSIONS: CNVs associated with SCZ have high pathogenicity. The majority of the increased risk conferred by CNVs is toward the development of an earlier-onset disorder, such as DD/ASD/CM, rather than SCZ. The penetrance of CNVs correlates strongly with their selection coefficients. The improved estimates of penetrance will provide crucial information for genetic counselling.
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“Carriers of the 16p11.2duplication also have a high probability of developing SZ”
From Neural circuits regulating prosocial behaviors (2023) · cites this paper as [136]
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“unlike individuals with a 22q11.2deletion, only a small percentage of these subjects also present with intellectual disabilities [136,137].”
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Metadata
- Authors
- Kirov, G., Rees, E., Walters, J. T. R., Escott-Price, V., Georgieva, L., Richards, A. L., Chambert, K. D., Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., O’Donovan, M. C., & Owen, M. J.
- Affiliations
- Cardiff University (GB)
- Broad Institute (US)
- Corresponding author
- Kirov, George
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 75
- Issue
- 5
- Pages
- 378-385
- ISSN
- 0006-3223 (ISSN-L)
- PMC
- PMC4229045
- OpenAlex
- W2170090311
- Cited by
- 368
- References
- 28
- Citations by year
- 2026: 6 · 2025: 21 · 2024: 16 · 2023: 23 · 2022: 25 · 2021: 43 · 2020: 39 · 2019: 50 · 2018: 22 · 2017: 29 · 2016: 35 · 2015: 27 · 2014: 26
- FWCI
- 20.58
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Biological Psychiatry (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Medical Research Council (MRC) Centre (G0800509)
- Program Grants (G0801418)
- 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, developmental delay, autism spectrum disorder, congenital malformations, penetrance, selection pressure, genetic counseling, recurrent CNVs, genetic risk
- MeSH terms
- Developmental Disabilities, Chromosome Aberrations, Female, Humans, Male, Schizophrenia, Penetrance, Genetic Predisposition to Disease, DNA Copy Number Variations
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