The Role of DNA Copy Number Variation in Schizophrenia
Open accessAbstract
Schizophrenia is a major psychiatric disease with strong evidence of genetic risk factors. Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus. These schizophrenia susceptibility CNV loci demonstrate that schizophrenia is, at least in part, genetic in origin and provide the basis for further investigation of mutations associated with the disease. The studies combined have also established the role of rare and-in sporadic cases-de novo variants in schizophrenia. Furthermore, neuronal-related genes and genetic pathways are starting to emerge from the CNV loci associated with schizophrenia. Here, we review the major findings in the recent literature, which begin to unravel the genetic and biological architecture of this complex human neuropsychiatric disorder.
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Gene-set enrichment studies have supported conclusions drawn from consideration of genes affected by individual CNVs in schizophrenia.
“gene-set enrichment studies have supported conclusions drawn from consideration of genes affected by individual CNVs in schizophrenia16”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [16]
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Genetische Aspekte der Neuropsychologie psychischer Störungen
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The impact of CNV burden on age at onset of schizophrenia
Muntané, G., Valle, A., Ramon-Cañellas, P., Martorell, L., & Vilella, E. (2026) · Schizophrenia Research · doi:10.1016/j.schres.2026.02.006
- Authors
- Tam, G. W. C., Redon, R., Carter, N. P., & Grant, S. G. N.
- Affiliations
- Wellcome Sanger Institute (GB)
- Corresponding author
- Grant, Seth G.N.
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2009-12
- Volume
- 66
- Issue
- 11
- Pages
- 1005-1012
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2083492263
- Cited by
- 98
- References
- 104
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 2 · 2020: 4 · 2019: 4 · 2018: 4 · 2017: 4 · 2016: 4 · 2015: 4 · 2014: 10 · 2013: 9 · 2012: 20
- FWCI
- 1.42
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- 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
- schizophrenia, copy number variation, genetic susceptibility, 15q13.3, de novo mutations, recurrent deletions, neuronal genes, genetic architecture
- MeSH terms
- Mental Disorders, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 2, Humans, Models, Genetic, Neural Pathways, Schizophrenia, Genetic Predisposition to Disease, Genome-Wide Association Study, DNA Copy Number Variations
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