Singleton deletions throughout the genome increase risk of bipolar disorder
Open accessAbstract
An overall burden of rare structural genomic variants has not been reported in bipolar disorder (BD), although there have been reports of cases with microduplication and microdeletion. Here, we present a genome-wide copy number variant (CNV) survey of 1001 cases and 1034 controls using the Affymetrix single nucleotide polymorphism (SNP) 6.0 SNP and CNV platform. Singleton deletions (deletions that appear only once in the dataset) more than 100 kb in length are present in 16.2% of BD cases in contrast to 12.3% of controls (permutation P=0.007). This effect was more pronounced for age at onset of mania <or=18 years old. Our results strongly suggest that BD can result from the effects of multiple rare structural variants.
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Preliminary findings and similar previous results suggest that early-onset mania may define a bipolar disorder subclass with greater contribution from rare alleles of large effect.
“These preliminary findings and similar results from previous studies (Priebe et al., 2011 and Zhang et al., 2009) suggest that individuals with an early onset of mania might constitute a subclass of bipolar disorder in which there is a greater contribution from rare alleles of large effect.”
From High frequencies of de novo CNVs in bipolar disorder and schizophrenia (2011) · cites this paper as Zhang et al., 2009
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 [51]
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- Authors
- Zhang, D., Cheng, L., Qian, Y., Alliey-Rodriguez, N., Kelsoe, J. R., Greenwood, T., Nievergelt, C., Barrett, T. B., McKinney, R., Schork, N., Smith, E. N., Bloss, C., Nurnberger, J., Edenberg, H. J., Foroud, T., Sheftner, W., Lawson, W. B., Nwulia, E. A., Hipolito, M., Coryell, W., Rice, J., Byerley, W., McMahon, F., Schulze, T. G., Berrettini, W., Potash, J. B., Belmonte, P. L., Zandi, P. P., McInnis, M. G., Zöllner, S., Craig, D., Szelinger, S., Koller, D., Christian, S. L., Liu, C., & Gershon, E. S.
- Affiliations
- University of Chicago (US)
- University of California San Diego (US)
- Scripps Research Institute (US)
- Indiana University Indianapolis (US)
- Howard University (US)
- University of Iowa (US)
- Washington University in St. Louis (US)
- University of California, San Francisco (US)
- National Institutes of Health (US)
- University of Pennsylvania (US)
- Johns Hopkins University (US)
- University of Michigan (US)
- Translational Genomics Research Institute (US)
- Indiana University School of Medicine (US)
- Corresponding author
- Liu, C
- Gershon, E S
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2008-12-30
- Volume
- 14
- Issue
- 4
- Pages
- 376-380
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC2735188
- OpenAlex
- W2156023964
- Cited by
- 148
- References
- 29
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 3 · 2020: 1 · 2018: 3 · 2017: 7 · 2016: 7 · 2015: 7 · 2014: 16 · 2013: 12 · 2012: 23
- FWCI
- 14.52
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- National Institute of Mental Health (R01MH059535, R01MH094483, R01MH081804, K01MH072866, R01MH061613)
- 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
- bipolar disorder, copy number variation, structural variants, rare variants, microdeletion
- MeSH terms
- Bipolar Disorder, Female, Genotype, Humans, Male, Risk, Genome, Human, Odds Ratio, Case-Control Studies, Sequence Deletion, Gene Dosage, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Genome-Wide Association Study
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