CNVs in neuropsychiatric disorders
Abstract
Over the last few years at least 11 copy number variations (CNVs) have been shown convincingly to increase risk to developing schizophrenia: deletions at 1q21.1, NRXN1, 3q29, 15q11.2, 15q13.3 and 22q11.2, and duplications at 1q21.1, 7q11.23, 15q11.2-q13.1, 16p13.1 and proximal 16p11.2. They are very rare, found cumulatively in 2.4% of patients with schizophrenia and in only 0.5% of controls. They all increase risk for other neurodevelopmental disorders, such as developmental delay and autism spectrum disorders, where they are found at higher rates (3.3%). Their involvement in bipolar affective disorder is much less prominent. All of them affect multiple genes (apart from NRXN1) and cause substantial increases in risk to develop schizophrenia (odds ratios of 2 to over 50). Their penetrance for any neurodevelopmental disorder is high, from ∼10% to nearly 100%. Carriers of these CNVs display cognitive deficits, even when free of neuropsychiatric disorders.
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Most copy number variants confer increased risk for multiple psychiatric disorders including intellectual disability, autism spectrum disorder, ADHD, and psychotic disorders.
“most CNVs confer increased risk for multiple psychiatric disorders including ID, ASD, ADHD, and psychotic disorders (Kirov, 2015; Lowther et al., 2017)”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Kirov, 2015
Most known pathogenic copy number variants increase risk for multiple disorders.
“Most known pathogenic CNVs increase risk for multiple disorders (de la Torre-Ubieta et al., 2016; Kirov, 2015; Lowther et al., 2017; Malhotra and Sebat, 2012).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Kirov, 2015
Rare copy number variants and more than 100 common variants have been conclusively identified as genetic risk factors for schizophrenia.
“only recently have specific genetic risk factors been conclusively identified, including rare copy number variants2 and >100 common variants3”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [2]
Common structural variation is shared by individuals with ASD, schizophrenia and intellectual disability.
“Finally, evidence that common structural variation is shared by individuals with ASD, schizophrenia and intellectual disability (ID) continues to fuel a common biological model of ID-ASD-schizophrenia [21].”
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References 39 · Cited by 159
- Authors
- Kirov, G.
- Affiliations
- Cardiff University (GB)
- Corresponding author
- Kirov, George
- ORCID
- Kirov, George
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-06-30
- Volume
- 24
- Issue
- R1
- Pages
- R45-R49
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1944444102
- Cited by
- 159
- References
- 39
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 12 · 2023: 8 · 2022: 11 · 2021: 33 · 2020: 14 · 2019: 15 · 2018: 19 · 2017: 19 · 2016: 11 · 2015: 4
- FWCI
- 2.24
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- Medical Research Council (G0801418, MR/L010305/1, G0800509)
- 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 › Genetics and Neurodevelopmental Disorders
- Keywords
- copy number variation, schizophrenia, neuropsychiatric disorders, neurodevelopmental disorders, autism spectrum disorder, developmental delay, bipolar disorder, 1q21.1 deletion, 15q11.2, 15q13.3, 22q11.2, NRXN1, 16p11.2, genetic risk, cognitive impairment, penetrance
- MeSH terms
- Mental Disorders, Cognition, Humans, Nervous System Diseases, Risk Factors, Genome-Wide Association Study, DNA Copy Number Variations
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