The bipolar disorder phenome database: a resource for genetic studies
Abstract
OBJECTIVE: The purpose of this study was to assemble and validate a database of phenotypic variables that were collected from families with bipolar disorder as a resource for genetic and other biological studies. METHOD: Participants were ascertained for two bipolar disorder genetic linkage studies: the University of Chicago, Johns Hopkins, and National Institute of Mental Health (NIMH) Intramural Program (CHIP) Collaboration and the NIMH Genetics Initiative project. All participants underwent detailed, phenotypic assessment with either the Schedule for Affective Disorders and Schizophrenia-Lifetime Version or one of four versions of the Diagnostic Interview for Genetic Studies. Clinicians reviewed the interview items and derived variable definitions that were used to extract data from the original datasets. The combined data were subjected to range and logic assessments, and a subset was re-verified against the original data. Inconsistent data and variables that were deemed unreliable were excluded. Several of the resulting variables were characterized in the total cohort and tested for familial clustering, heritability, and statistical power in genetic linkage and association studies. RESULTS: The combined database of phenotypic variables contained 197 variables on 5,721 subjects in 1,177 families. Deoxyribonucleic acid (DNA) samples are available for 5,373 of these subjects. The clinical presentation of bipolar disorder varied markedly. Most subjects suffered from serious and often disabling illness. Many phenotypic variables are strongly familial, and some quantitative variables are highly heritable. The cohort assembled in this study offers substantial power to carry out genetic linkage and association studies that use specific clinical features as covariates or as primary phenotypes. CONCLUSIONS: This is the largest database of phenotypic variables yet assembled for bipolar disorder, and it is now available to the research community. Researchers and clinicians can use this database to explore the connections between phenomenology and genetics in a cohort that is adequately powered to detect even modest genetic effects in bipolar disorder.
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Age at onset appears to stratify some bipolar disorder subtypes.
“One measure that appears to stratify some of these subtypes is age at onset (Faraone et al., 2003; Potash et al., 2007).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Potash et al., 2007
Bipolar disorder consists of multiple distinct subtypes.
“There is evidence to suggest that bipolar disorder consists of multiple distinct subtypes.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Potash et al., 2007
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Self-citation
- Authors
- Potash, J. B., Toolan, J., Steele, J., Miller, E. B., Pearl, J., Zandi, P. P., Schulze, T. G., Kassem, L., Simpson, S. G., Lopez, V., NIMH Genetics Initiative Bipolar Disorder Consortium, MacKinnon, D. F., & McMahon, F. J.
- Affiliations
- Johns Hopkins University (US)
- ORCID
- Venue
- American Journal of Psychiatry
- Published
- 2007-08
- Volume
- 164
- Issue
- 8
- Pages
- 1229-1237
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- OpenAlex
- W2061160331
- Cited by
- 80
- References
- 41
- Citations by year
- 2026: 1 · 2025: 1 · 2022: 1 · 2021: 6 · 2020: 4 · 2019: 1 · 2018: 3 · 2017: 1 · 2016: 4 · 2015: 3 · 2014: 3 · 2013: 5 · 2012: 12
- FWCI
- 5.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (R01MH42243-14, R01MH042243, K01MH072866)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- bipolar disorder, genetic linkage, genetic association, familial aggregation, heritability, clinical phenotype, DIAS, data validation, statistical power
- MeSH terms
- Adult, Bipolar Disorder, Chromosome Mapping, Female, Genetic Testing, Genotype, Humans, Genetic Linkage, Male, National Institute of Mental Health (U.S.), Pedigree, Phenotype, Psychotic Disorders, Research Design, United States, Genetic Variation, Reproducibility of Results, Cohort Studies, Comorbidity, Genetic Predisposition to Disease, Databases, Genetic, Genetic Research
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