Rare Copy Number Variants<subtitle>A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia</subtitle><alt-title>Rare Copy Number Variants</alt-title>
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CONTEXT: Recent studies suggest that copy number variation in the human genome is extensive and may play an important role in susceptibility to disease, including neuropsychiatric disorders such as schizophrenia and autism. The possible involvement of copy number variants (CNVs) in bipolar disorder has received little attention to date. OBJECTIVES: To determine whether large (>100,000 base pairs) and rare (found in <1% of the population) CNVs are associated with susceptibility to bipolar disorder and to compare with findings in schizophrenia. DESIGN: A genome-wide survey of large, rare CNVs in a case-control sample using a high-density microarray. SETTING: The Wellcome Trust Case Control Consortium. PARTICIPANTS: There were 1697 cases of bipolar disorder and 2806 nonpsychiatric controls. All participants were white UK residents. MAIN OUTCOME MEASURES: Overall load of CNVs and presence of rare CNVs. RESULTS: The burden of CNVs in bipolar disorder was not increased compared with controls and was significantly less than in schizophrenia cases. The CNVs previously implicated in the etiology of schizophrenia were not more common in cases with bipolar disorder. CONCLUSIONS: Schizophrenia and bipolar disorder differ with respect to CNV burden in general and association with specific CNVs in particular. Our data are consistent with the possibility that possession of large, rare deletions may modify the phenotype in those at risk of psychosis: those possessing such events are more likely to be diagnosed as having schizophrenia, and those without them are more likely to be diagnosed as having bipolar disorder.
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Current evidence suggests CNVs have a role in bipolar disorder, but large deletions in particular play a very limited role.
“Current evidence suggests that CNVs have a role to play (Malhotra et al., 2011), but some, particularly large deletions appear to play a very limited role (Grozeva et al., 2010; Malhotra et al., 2011).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Grozeva et al., 2010
Two other studies did not support enrichment of rare CNVs in bipolar disorder.
“However, the observed effects were still quite small (OR~1.5), and results from two other studies (Grozeva et al., 2010; McQuillin et al., 2011) did not support these findings.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Grozeva et al., 2010
Pleiotropic effects are common; the same CNV often confers risk for a range of neurodevelopmental phenotypes including autism, mental retardation, attention deficit hyperactivity disorder and epilepsy.
“Pleiotropic effects are common, the same CNV often conferring risk for a range of neurodevelopmental phenotypes including autism, mental retardation, attention deficit hyperactivity disorder and epilepsy”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [14]
There is little evidence that schizophrenia-associated CNVs confer risk for bipolar disorder.
“there is little evidence that schizophrenia-associated CNVs confer risk for bipolar disorder.14”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [14]
For BIP, there are reports of increased and similar SV burden in cases versus controls.
“For BIP, there are reports of increased 51–53 and similar SV burden in cases versus controls 54,55”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [54]
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- Authors
- Grozeva, D.
- Affiliations
- Cardiff University (GB)
- Corresponding author
- Grozeva, Detelina
- ORCID
- Grozeva, Detelina
- Venue
- Archives of General Psychiatry
- Publisher
- American Medical Association (AMA)
- Published
- 2010-04-01
- Volume
- 67
- Issue
- 4
- Pages
- 318
- ISSN
- 0003-990X (ISSN-L)
- PMC
- PMC4476027
- OpenAlex
- W2165070791
- Cited by
- 192
- References
- 44
- Citations by year
- 2025: 1 · 2024: 2 · 2022: 8 · 2021: 6 · 2020: 7 · 2019: 5 · 2018: 6 · 2017: 7 · 2016: 13 · 2015: 14 · 2014: 24 · 2013: 16 · 2012: 38
- FWCI
- 17.43
- Type
- journal article
- Language
- en
- Open access
- green
- kclpure.kcl.ac.uk
- Licence
- other-oa
- Locations
- Archives of General Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Figshare (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (079643, 061858, 090532)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- copy number variation, bipolar disorder, schizophrenia, genetic susceptibility, CNV burden, psychosis, neuropsychiatric disorders, Wellcome Trust Case Control Consortium
- MeSH terms
- Bipolar Disorder, Genotype, Humans, Risk Factors, Schizophrenia, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Genome-Wide Association Study, DNA Copy Number Variations
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