Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
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We investigated the involvement of rare (<1%) copy number variants (CNVs) in 471 cases of schizophrenia and 2792 controls that had been genotyped using the Affymetrix GeneChip 500K Mapping Array. Large CNVs >1 Mb were 2.26 times more common in cases (P = 0.00027), with the effect coming mostly from deletions (odds ratio, OR = 4.53, P = 0.00013) although duplications were also more common (OR = 1.71, P = 0.04). Two large deletions were found in two cases each, but in no controls: a deletion at 22q11.2 known to be a susceptibility factor for schizophrenia and a deletion on 17p12, at 14.0-15.4 Mb. The latter is known to cause hereditary neuropathy with liability to pressure palsies. The same deletion was found in 6 of 4618 (0.13%) cases and 6 of 36 092 (0.017%) controls in the re-analysed data of two recent large CNV studies of schizophrenia (OR = 7.82, P = 0.001), with the combined significance level for all three studies achieving P = 5 x 10(-5). One large duplication on 16p13.1, which has been previously implicated as a susceptibility factor for autism, was found in three cases and six controls (0.6% versus 0.2%, OR = 2.98, P = 0.13). We also provide the first support for a recently reported association between deletions at 15q11.2 and schizophrenia (P = 0.026). This study confirms the involvement of rare CNVs in the pathogenesis of schizophrenia and contributes to the growing list of specific CNVs that are implicated.
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The BP1-BP2 deletion is associated with phenotypic variability and has been reported in individuals with neurodevelopmental disorders, schizophrenia, ASD, and epilepsy.
“The BP1-BP2 deletion is associated with phenotypic variability and has been reported in individuals with neurodevelopmental disorders [20], schizophrenia [53], [60], ASD [44]–[46], [49], and epilepsy [61].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [60]
Subsequent studies confirm that rare CNVs are collectively more common in schizophrenia cases than controls.
“These findings have been supported by several subsequent studies (Buizer-Voskamp et al., 2011; Kirov et al., 2009), confirming that rare CNVs are collectively more common in schizophrenia cases compared to controls.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Kirov et al., 2009
Large (>100 kb) rare (<1%) CNVs occur more frequently in those with schizophrenia than controls.
“Cumulatively, as a general class, large (>100 kb) rare (<1%) CNVs occur more frequently in those with schizophrenia2, 3 than controls”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [3]
There is strong published evidence for deletions at 15q11.2 being relevant to schizophrenia.
“Although there is strong published evidence for deletions at this locus being relevant to schizophrenia,3, 7”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [3]
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Castronovo, P., Baccarin, M., Ricciardello, A., Picinelli, C., Tomaiuolo, P., Cucinotta, F., Frittoli, M., Lintas, C., Sacco, R., & Persico, A. M. (2020) · Clinical Genetics · doi:10.1111/cge.13537 · Cited by 65 · see citing works
Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation
Carroll, L. S., Woolf, R., Ibrahim, Y., Williams, H. J., Dwyer, S., Walters, J., Kirov, G., O’Donovan, M. C., & Owen, M. J. (2016) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000110 · Cited by 54 · see citing works
Self-citationThe role of copy number variation in schizophrenia
Kirov, G. (2010) · Expert Review of Neurotherapeutics · doi:10.1586/ern.09.133 · Cited by 52 · see citing works
Self-citationGenome-wide association analysis of copy number variation in recurrent depressive disorder
Rucker, J. J. H., Breen, G., Pinto, D., Pedroso, I., Lewis, C. M., Cohen-Woods, S., Uher, R., Schosser, A., Rivera, M., Aitchison, K. J., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2011.144 · Cited by 51 · see citing works
Self-citationMcQuillin, A., Bass, N., Anjorin, A., Lawrence, J., Kandaswamy, R., Lydall, G., Moran, J., Sklar, P., Purcell, S., & Gurling, H. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.221 · Cited by 47 · see citing works
Mansfield, P., Constantino, J. N., & Baldridge, D. (2020) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32781 · Cited by 27 · see citing works
Flaherty, E. K., & Brennand, K. J. (2017) · Brain Research · doi:10.1016/j.brainres.2015.11.009 · Cited by 19 · see citing works
- Authors
- Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Craddock, N., Owen, M. J., & O'Donovan, M. C.
- Affiliations
- Cardiff University (GB)
- Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
- Corresponding author
- Owen, Michael J.
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2009-01-29
- Volume
- 18
- Issue
- 8
- Pages
- 1497-1503
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2664144
- OpenAlex
- W2091467970
- Cited by
- 390
- References
- 37
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 5 · 2023: 5 · 2022: 6 · 2021: 6 · 2020: 8 · 2019: 10 · 2018: 13 · 2017: 13 · 2016: 19 · 2015: 33 · 2014: 33 · 2013: 37 · 2012: 57
- FWCI
- 38.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Wellcome Trust (076113)
- Medical Research Council (MH066392)
- National Institute of Mental Health (P50MH066392, MH066392)
- 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, rare copy number variants, large deletions, 22q11.2 deletion, genetic susceptibility, pathogenesis
- MeSH terms
- Female, United Kingdom, Humans, Male, Schizophrenia, Gene Deletion, Gene Dosage, Polymorphism, Single Nucleotide
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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