Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder
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We used genome-wide single nucleotide polymorphism (SNP) data to search for the presence of copy number variants (CNVs) in 882 patients with bipolar disorder (BD) and 872 population-based controls. A total of 291 (33%) patients had an early age-at-onset < or =21 years (AO < or =21 years). We systematically filtered for CNVs that cover at least 30 consecutive SNPs and which directly affect at least one RefSeq gene. We tested whether (a) the genome-wide burden of these filtered CNVs differed between patients and controls and whether (b) the frequency of specific CNVs differed between patients and controls. Genome-wide burden analyses revealed that the frequency and size of CNVs did not differ substantially between the total samples of BD patients and controls. However, separate analysis of patients with AO < or =21 years and AO>21 years showed that the frequency of microduplications was significantly higher (P=0.0004) and the average size of singleton microdeletions was significantly larger (P=0.0056) in patients with AO < or =21 years compared with controls. A search for specific BD-associated CNVs identified two common CNVs: (a) a 160 kb microduplication on 10q11 was overrepresented in AO < or = 21 years patients (9.62%) compared with controls (3.67%, P=0.0005) and (b) a 248 kb microduplication on 6q27 was overrepresented in the AO< or = 21 years subgroup (5.84%) compared with controls (2.52%, P=0.0039). These data suggest that CNVs have an influence on the development of early-onset, but not later-onset BD. Our study provides further support for previous hypotheses of an etiological difference between early-onset and later-onset BD.
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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 [52]
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- Authors
- Priebe, L., Degenhardt, F. A., Herms, S., Haenisch, B., Mattheisen, M., Nieratschker, V, Weingarten, M., Witt, S., Breuer, R., Paul, T., Alblas, M., Moebus, S., Lathrop, M., Leboyer, M., Schreiber, S., Grigoroiu-Serbanescu, M., Maier, W., Propping, P., Rietschel, M., Nöthen, M. M., Cichon, S., & Mühleisen, T. W.
- Affiliations
- University of Bonn (DE)
- Central Institute of Mental Health (DE)
- Institut für Medizinische Informatik, Biometrie und Epidemiologie (DE)
- Inserm (FR)
- Christian-Albrechts-Universität zu Kiel (DE)
- Corresponding author
- Cichon, S
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2011-03-01
- Volume
- 17
- Issue
- 4
- Pages
- 421-432
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W1979693159
- Cited by
- 84
- References
- 54
- Citations by year
- 2026: 1 · 2024: 3 · 2023: 2 · 2022: 5 · 2021: 4 · 2020: 6 · 2019: 1 · 2018: 4 · 2017: 6 · 2016: 3 · 2015: 9 · 2014: 10 · 2013: 10 · 2012: 16
- FWCI
- 8.75
- Type
- journal article
- Language
- en
- Open access
- green
- hal.science
- Licence
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Funders
- National Center for Research Resources (RR-03655, P41RR003655)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- copy number variation, bipolar disorder, early-onset bipolar disorder, age of onset, microduplication, microdeletion, genetic etiology, single nucleotide polymorphisms
- MeSH terms
- Adult, Age Factors, Bipolar Disorder, Female, Germany, Humans, Male, Case-Control Studies, Age of Onset, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Databases, Genetic, Genome-Wide Association Study, DNA Copy Number Variations
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