Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients
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Background Since 2008, multiple studies have reported on copy number variations (CNVs) in schizophrenia. However, many regions are unique events with minimal overlap between studies. This makes it difficult to gain a comprehensive overview of all CNVs involved in the etiology of schizophrenia. We performed a systematic CNV study on the basis of a homogeneous genome-wide dataset aiming at all CNVs ≥ 50 kilobase pair. We complemented this analysis with a review of cytogenetic and chromosomal abnormalities for schizophrenia reported in the literature with the purpose of combining classical genetic findings and our current understanding of genomic variation.Methods We investigated 834 Dutch schizophrenia patients and 672 Dutch control subjects. The CNVs were included if they were detected by QuantiSNP (http://www.well.ox.ac.uk/QuantiSNP/) as well as PennCNV (http://www.neurogenome.org/cnv/penncnv/) and contain known protein coding genes. The integrated identification of CNV regions and cytogenetic loci indicates regions of interest (cytogenetic regions of interest [CROIs]).Results In total, 2437 CNVs were identified with an average number of 2.1 CNVs/subject for both cases and control subjects. We observed significantly more deletions but not duplications in schizophrenia cases versus control subjects. The CNVs identified coincide with loci previously reported in the literature, confirming well-established schizophrenia CROIs 1q42 and 22q11.2 as well as indicating a potentially novel CROI on chromosome 5q35.1.Conclusions Chromosomal deletions are more prevalent in schizophrenia patients than in healthy subjects and therefore confer a risk factor for pathogenicity. The combination of our CNV data with previously reported cytogenetic abnormalities in schizophrenia provides an overview of potentially interesting regions for positional candidate genes.
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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 Buizer-Voskamp et al., 2011
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- Authors
- Buizer-Voskamp, J. E., Muntjewerff, J.-W., Strengman, E., Sabatti, C., Stefansson, H., Vorstman, J. A. S., & Ophoff, R. A.
- Affiliations
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- Stanford Medicine (US)
- University of California, Los Angeles (US)
- Corresponding author
- Ophoff, Roel A.
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 70
- Issue
- 7
- Pages
- 655-662
- ISSN
- 0006-3223 (ISSN-L)
- PMC
- PMC3137747
- OpenAlex
- W2127074096
- Cited by
- 68
- References
- 55
- Citations by year
- 2026: 2 · 2023: 2 · 2021: 2 · 2020: 3 · 2019: 4 · 2018: 1 · 2017: 1 · 2016: 5 · 2015: 10 · 2014: 9 · 2013: 7 · 2012: 17
- FWCI
- 7.57
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- PubMed Central (acceptedVersion)
- Lirias (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion)
- Funders
- ZON-MW
- National Institute of Mental Health (RO1 MG078075)
- 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, chromosomal deletion, duplication, chromosomal abnormalities, region of interest, 22q11.2, genetic risk factors, Dutch patients
- MeSH terms
- Base Sequence, Humans, Netherlands, Schizophrenia, Case-Control Studies, Sequence Deletion, Genetic Predisposition to Disease, Genome-Wide Association Study, DNA Copy Number Variations
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