The role of copy number variation in schizophrenia
Abstract
Recent developments in microarray technology have revealed the presence of many submicroscopic deletions and duplications in the human genome. Some of these have been found to increase the risk for neuropsychiatric disorders. Over the last 2 years, several large studies on schizophrenia have implicated large deletions and duplications that increase the risk of developing this disorder. It is now clear that rare deletions at 1q21.1, 15q13.3, 15q11.2 and 22q11.2, as well as duplications at 16p11.2 and 16p13.1, increase the risk of developing schizophrenia. They are found collectively in up to 3% of patients; therefore, they account for only a small proportion of the genetic causes of schizophrenia. In this paper I will review the evidence for these findings.
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There is a robust association between NRXN1 deletions and schizophrenia.
“the robust association between NRXN1 deletions and schizophrenia48”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [48]
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“Received 27 July 2011; revised 28 September 2011; accepted 4 October 2011; published online 15 November 2011 Correspondence: Dr G Kirov, PhD, MRCPsych or Professor MC O’Donovan, PhD, FRCPsych, Department of Psychological Medicine and Neurology, Henry Wellcome Building, School of Medicine, Cardiff University, Heath Par…”
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- Authors
- Kirov, G.
- Affiliations
- Cardiff University (GB)
- Corresponding author
- Kirov, George
- ORCID
- Kirov, George
- Venue
- Expert Review of Neurotherapeutics
- Publisher
- Informa UK Limited
- Published
- 2010-01
- Volume
- 10
- Issue
- 1
- Pages
- 25-32
- ISSN
- 1473-7175 (ISSN-L)
- 1744-8360
- OpenAlex
- W2159733789
- Cited by
- 52
- References
- 50
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 1 · 2021: 2 · 2018: 2 · 2017: 2 · 2016: 4 · 2015: 4 · 2014: 5 · 2013: 5 · 2012: 9
- FWCI
- 4.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Expert Review of Neurotherapeutics (publishedVersion)
- PubMed (publishedVersion)
- 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 › Genome Rearrangement Algorithms
- Keywords
- copy number variation, schizophrenia, chromosomal deletion, chromosomal duplication, 1q21.1 deletion, 22q11.2 deletion, 16p11.2 duplication, genetic risk, neuropsychiatric disorders
- MeSH terms
- Chromosomes, Human, Chromosomes, Human, Pair 22, Humans, Schizophrenia, Genome, Human, Genetic Predisposition to Disease, DNA Copy Number Variations
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