The DOI matches its Crossref record, with a small difference in title or year; 44 of the 44 references it cites were found in a registry or an index.
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>
Open accessAbstract
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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“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]
In the citing paper
“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
In the citing paper
“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
In the citing paper
“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]
In the citing paper
“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]
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Citations
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BackgroundLarge recurrent microdeletions associated with schizophrenia.
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“14 All of the currently known risk CNVs are rare (control frequencies typically 0.001) and confer substantial effects on risk (odds ratios 3–30).”
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“It is of interest that association between CNVs and mood disorders has not been consistently found suggesting that such variants might be especially important in neurodevelopmental disorders (Grozeva et al., 2010).”
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“30 Under the assumption that large copy number variants are likely to have adverse consequences on brain development, these findings are consistent with the view that schizophrenia has a stronger neurodevelopmental component than bipolar disorder.”
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Neurodevelopment, GABA System Dysfunction, and Schizophrenia
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“There is controversy as to whether schizophrenia and psychotic bipolar disorders show such a point of rarity in the phenotype or their associated genotype (Bora et al., 2010; Grozeva et al., 2010).”
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“Like SNPs, the schizophrenia-associated CNVs do not show diagnostic specificity, also conferring risk of autism and learning disability (Malhotra and Sebat, 2012), though perhaps not bipolar disorder (Grozeva et al., 2010).”
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“On the one hand, both disorders share some common genetic vulnerability factors and yet, on the other hand, schizophrenia, unlike bipolar disorder, also seems to share genetic risk factors with other neurodevelopmental disorders (Craddock & Owen, 2010; Grozeva et al. 2010).”
Background1q21.1 Microduplication expression in adults
Dolcetti, A., Silversides, C. K., Marshall, C. R., Lionel, A. C., Stavropoulos, D. J., Scherer, S. W., & Bassett, A. S. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.129 · Cited by 128
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The genetic variability and commonality of neurodevelopmental disease
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“…phenotypic severity (defined as increasing comorbidity of ID and congenital abnormalities). neuropsychiatric and neurodevelope- ment disease as both disruptive point mutations as well as smaller CNVs are systematically discovered [Hardenbol et al., 2003; Porreca et al., 2007; Turner et al., 2009].”
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Contributions of the d-serine pathway to schizophrenia
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“Furthermore, G72 and DAO are not located within CNV regions implicated in schizophrenia (International Schizophrenia Consortium, 2008; Stefansson et al., 2008; Kirov et al., 2009; Ingason et al., 2009; Need et al., 2009; Shi et al., 2009b; Glessner et al., 2010; Grozeva et al., 2010).”
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“For example, it was recently reported that the occurrence of copy number variations, which involves large and rare base pair mutations, ismore common in SCZ compared to bipolar disorder (Grozeva et al., 2010).”
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“…et al. 2009 SNP 1,846,600 1.7 kb bipolar disorder 1,001 E a unique deletion >100 kb occurs in 16.2% of cases compared to 12.3% of 1,034 controls Grozeva et al. 2010 SNP 500,000 6 kb bipolar disorder 1,697 E rare deletions >100 kb at equal frequency in cases and controls Craddock et al. 2010…”
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An update on the debated association between ADHD and bipolar disorder across the lifespan
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“Therefore, it is proposed that alleles with non-specific risk factors are easier to diagnose [44,45].”
BackgroundRecent genomic advances in schizophrenia
Doherty, J. L., O’Donovan, M. C., & Owen, M. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01773.x · Cited by 94
Schizophrenia Genomics: Convergence on Synaptic Development, Adult Synaptic Plasticity, or Both?
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De novo CNVs in bipolar affective disorder and schizophrenia
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A genetic model for neurodevelopmental disease
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“The results on CNVs in the bipolar disorder patients have been published elsewhere (Grozeva et al., 2010).”
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“However, a similar study, also looking at the WTCCC data, compared frequency and number of CNVs across disorders, and reported that, while the burden of CNVs is elevated in schizophrenia (SCZ), the CNV burden in BD was not increased in comparison to controls [Grozeva et al., 2010].”
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RNA-Seq analysis implicates dysregulation of the immune system in schizophrenia
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“CNV AND BIOLOGICAL/CLINICAL INTERPRETATION The importance of rare CNVs emerged with a few GWAs (Glessner et al., 2010; Grozeva et al., 2010; Prakash et al., 2010) and many candidate studies (de Cid et al.”
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“On the other hand, the few studies of rare CNV in bipolar disorder indicate little overlap of these forms of schizophrenia with this major mood disorder.(5,158) This would be consistent with the historical clinical separation of schizophrenia and bipo-”
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“In addition to using psychometrically validated measures of symptom severity, future research could focus on genetic techniques to differentiate SCZ, SAD, and BDP, including copy number variants (Grozeva et al., 2010) and polygenic dissection (Ruderfer et al.”
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Whalley, H. C., Papmeyer, M., Sprooten, E., Lawrie, S. M., Sussmann, J. E., & McIntosh, A. M. (2012) · Bipolar Disorders · doi:10.1111/j.1399-5618.2012.01016.x · Cited by 70
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“2 and the risk of bipolar disorder (Grozeva et al., 2010; Bergen et al., 2012; Van Den Bossche et al., 2012).”
Stewart, L. R., Hall, A. L., Kang, S.-H. L., Shaw, C. A., & Beaudet, A. L. (2011) · BMC Medical Genetics · doi:10.1186/1471-2350-12-154 · Cited by 67
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“However, a large number of studies have shown that SZ and BD share many features (Bramon and Sham, 2001; Cardno and Owen, 2014; Grozeva et al., 2010; Koreen et al., 1993; Maier, 2008; Maier et al., 2006; Shinn et al., 2012), challenging the idea that they represent two distinct disease processes.”
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“Rare CNVs at ASTN2 were identified in patients with BD, ASD, and attention-deficit hyperactivity disorder (17, 52).”
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The role of copy number variation in schizophrenia
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Genome-wide association analysis of copy number variation in recurrent depressive disorder
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MAGI1 Copy Number Variation in Bipolar Affective Disorder and Schizophrenia
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Ersland, K. M., Christoforou, A., Stansberg, C. T., Espeseth, T., Mattheisen, M., Mattingsdal, M., Hardarson, G. A., Hansen, T. F., Fernandes, C. P. D., Giddaluru, S., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031687 · Cited by 49
“copy number variations) have also been linked to disease susceptibility [13,14].”
BackgroundIncreased de novo copy number variants in the offspring of older males
Flatscher‐Bader, T., Foldi, C. J., Chong, S., Whitelaw, E., Moser, R. J., Burne, T. H. J., Eyles, D. W., & McGrath, J. J. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.30 · Cited by 47
Karege, F., Méary, A., Perroud, N. A., Jamain, S., Leboyer, M., Ballmann, E., Fernandez, R., Malafosse, A., & Schürhoff, F. (2012) · Schizophrenia Research · doi:10.1016/j.schres.2011.12.015 · Cited by 46
Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders
Brand, H., Pillalamarri, V., Collins, R. L., Eggert, S., O'Dushlaine, C. T., Braaten, E. B., Stone, M. R., Chambert, K., Doty, N. D., Hanscom, C., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.005 · Cited by 44
Copy number variants in adult patients with Lennox–Gastaut syndrome features
Lund, C., Brodtkorb, E., Røsby, O., Rødningen, O. K., & Selmer, K. K. (2013) · Epilepsy Research · doi:10.1016/j.eplepsyres.2013.01.009 · Cited by 44
New Developments in the Genetics of Bipolar Disorder
Shinozaki, G., & Potash, J. B. (2014) · Current Psychiatry Reports · doi:10.1007/s11920-014-0493-5 · Cited by 52
Modeling dopamine dysfunction in autism spectrum disorder: from invertebrates to vertebrates
DiCarlo, G. E., & Wallace, M. T. (2022) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.12.017 · Cited by 39
New quality measure for SNP array based CNV detection
Macé, A., Tuke, M. A., Beckmann, J. S., Lin, L., Jacquemont, S., Weedon, M. N., Reymond, A., & Kutalik, Z. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw477 · Cited by 40
Parental age and child outcomes
Bergh, C., Pinborg, A. B., & Wennerholm, U. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2019.04.026 · Cited by 45
Morris, D. W., Pearson, R. D., Cormican, P., Kenny, E. M., O'Dushlaine, C. T., Perreault, L.-P. L., Giannoulatou, E., Tropea, D., Maher, B. S., Wormley, B., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu025 · Cited by 42
“This is in keeping with evidence of shared genetic etiology between these disorders, although the evidence for CNV involvement in bipolar disorder has until now been more equivocal (42,43).”
Self-citationGenome-Wide Analysis of Copy Number Variation in Type 1 Diabetes
Grayson, B. L., Smith, M. E., Thomas, J. W., Wang, L., Dexheimer, P. J., Jeffrey, J., Fain, P. R., Nanduri, P., Eisenbarth, G. S., & Aune, T. M. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015393 · Cited by 42
Kandaswamy, R., McQuillin, A., Curtis, D., & Gurling, H. (2014) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32239 · Cited by 41
“CNVs have been implicated in the pathogenesis of many psychiatric disorders however CNVs associated with BP have been difficult to find [Zhang et al., 2009; Grozeva et al., 2010; McQuillin et al., 2011].”
BackgroundGragnoli, C., Reeves, G. M., Reazer, J., & Postolache, T. T. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.50 · Cited by 43
Chen, J., Calhoun, V. D., Perrone‐Bizzozero, N. I., Pearlson, G. D., Jing Sui （Beijing Normal University）， my correct affiliation is beijing normal university, N. Q. U. O. S. A. T., Du, Y.-X., & Liu, J. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.96 · Cited by 40
The genetics of early-onset bipolar disorder: A systematic review
Kennedy, K. P., Cullen, K. R., DeYoung, C. G., & Klimes‐Dougan, B. (2015) · Journal of Affective Disorders · doi:10.1016/j.jad.2015.05.017 · Cited by 40
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Bossche, M. J. A. V. D., Johnstone, M., Stražišar, M., Pickard, B. S., Goossens, D., Lenaerts, A., Zutter, S. D., Nordin, A., Norrback, K., Mendlewicz, J., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32088 · Cited by 40
“Several genome wide CNV studies found fewer CNVs in BPD patients than in the control group [Grozeva et al., 2010; McQuillin et al., 2011], although other studies did find an increased CNV burden also in BPD [Zhang et al., 2009; Malhotra et al., 2011].”
Addington, A. M., & Rapoport, J. L. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02478.x · Cited by 41
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Visual context processing in bipolar disorder: a comparison with schizophrenia
Yang, E., Tadin, D., Glasser, D. M., Wook Hong, S., Blake, R., & Park, S. (2013) · Frontiers in Psychology · doi:10.3389/fpsyg.2013.00569 · Cited by 38
Progress in defining the biological causes of schizophrenia
Pickard, B. S. (2011) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399411001955 · Cited by 40
Positive Traits in the Bipolar Spectrum: The Space between Madness and Genius
Greenwood, T. A. (2016) · Complex Psychiatry · doi:10.1159/000452416 · Cited by 41
Macé, A., Kutalik, Z., & Valsesia, A. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7868-7_14 · Cited by 40
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“…do not fully explain the genetic risk of schizophrenia (Schizophrenia Working Group of the Psychiatric Genomics, 2014) and while the effect sizes for some rare mutations such as copy number variants (CNV) are large, they contribute even less to risk (Grozeva et al., 2010; Malhotra and Sebat, 2012).”
Guyatt, A. L., Stergiakouli, E., Martin, J., Walters, J., O’Donovan, M. C., Owen, M. J., Thapar, A., Kirov, G., Rodrı́guez, S., Rai, D., et al. (2018) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32637 · Cited by 35
“While there have been numerous studies of rare CNVs and neuropsychiatric conditions in relation to clinically ascertained cases (such as SCZ [Grozeva et al., 2010; Kirov et al., 2009; Stone et al., 2008; Szatkiewicz et al., 2014], BPD [Grozeva et al.”
BackgroundSul, J. H., Service, S. K., Huang, A., Ramensky, V. E., Hwang, S., Teshiba, T. M., Park, Y., Ori, A. P. S., Zhang, Z., Mullins, N., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-0758-1 · Cited by 34
Electroencephalographic Microstates in Schizophrenia and Bipolar Disorder
Wang, F., Hujjaree, K., & Wang, X. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.638722 · Cited by 34
Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms
Badner, J. A., Koller, D. L., Foroud, T., Edenberg, H. J., Nürnberger, J. I., Zandi, P. P., Willour, V. L., McMahon, F. J., Potash, J. B., Hamshere, M. L., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.89 · Cited by 35
Self-citationBehavioral Genetics of Affective and Anxiety Disorders
Domschke, K., & Reif, A. (2011) · Current topics in behavioral neurosciences · doi:10.1007/7854_2011_185 · Cited by 36
Bossche, M. J. A. V. D., Stražišar, M., Bruyne, S. D., Bervoets, C., Lenaerts, A., Zutter, S. D., Nordin, A., Norrback, K., Goossens, D., Rijk, P. D., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32053 · Cited by 33
“…2008; Xu et al., 2008; Kirov et al., 2009; BuizerVoskamp et al., 2011;Malhotra et al., 2011; Vacic et al., 2011; Kirov et al., 2012] and BPD [Zhang et al., 2009; Grozeva et al., 2010; Wellcome Trust Case Control Consortium, 2010; Malhotra et al., 2011; McQuillin et al., 2011; Priebe et al., 2011].”
BackgroundSelf-citationReduced burden of very large and rare CNVs in bipolar affective disorder
Grozeva, D., Kirov, G., Conrad, D. F., Barnes, C. P., Hurles, M. E., Owen, M. J., O’Donovan, M. C., & Craddock, N. J. (2013) · Bipolar Disorders · doi:10.1111/bdi.12125 · Cited by 33
Self-citationChapman, J., Rees, E., Harold, D. H., Ivanov, D. K., Gerrish, A., Sims, R., Hollingworth, P., Stretton, A., Holmans, P., Owen, M. J., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds476 · Cited by 34
“(24) identified such CNVs at a rate of 0.”
BackgroundMethodResultThe emergence of human‐evolutionary medical genomics
Crespi, B. J. (2010) · Evolutionary Applications · doi:10.1111/j.1752-4571.2010.00156.x · Cited by 32
“…has demonstrated a significantly lower genome-wide ‘burden’ of presumably deleterious copy number deletions in bipolar patients compared to controls (Grozeva et al. 2010), which contrasts markedly with studies showing significantly higher burdens of copy number variants in two conditions,…”
ResultGinsberg, S. D., Hemby, S. E., & Smiley, J. F. (2011) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2011.09.015 · Cited by 28
“…the development of SZ and BP. Copy number variation (CNV) analysis in rare variants has also generated significant interest for studying the complex genetic susceptibility of multigenic diseases, including neuropsychiatric disorders (Chen et al., 2010; Grozeva et al., 2010; Saus et al., 2010).”
BackgroundUnderstanding the association between advanced paternal age and schizophrenia and bipolar disorder
Weiser, M., Fenchel, D., Frenkel, O., Fruchter, E., Burshtein, S., Yehuda, A. B., Yoffe, R., Bergman-Levy, T., Reichenberg, A., Davidson, M., et al. (2019) · Psychological Medicine · doi:10.1017/s0033291719000242 · Cited by 28
Parental age and risk of bipolar disorder in offspring
Brown, A. S., Bao, Y., McKeague, I. W., Shen, L., & Schaefer, C. A. (2013) · Psychiatry Research · doi:10.1016/j.psychres.2013.05.024 · Cited by 27
“…risk for schizophrenia compared to BD. Interestingly, a recent study found that large and rare copy number variants (CNVs) were significantly more common in schizophrenia cases than BD cases, and there were no significant differences in CNV burden between BD and controls (Grozeva et al., 2010).”
Metadata
- 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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