Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness
Abstract
GS:SFHS is a family-based genetic epidemiology study with DNA and socio-demographic and clinical data from about 24 000 volunteers across Scotland aged 18-98 years, from February 2006 to March 2011. Biological samples and anonymized data form a resource for research on the genetics of health, disease and quantitative traits of current and projected public health importance. Specific and important features of GS:SFHS include the family-based recruitment, with the intent of obtaining family groups; the breadth and depth of phenotype information, including detailed data on cognitive function, personality traits and mental health; consent and mechanisms for linkage of all data to comprehensive routine health-care records; and 'broad' consent from participants to use their data and samples for a wide range of medical research, including commercial research, and for re-contact for the potential collection of other data or samples, or for participation in related studies and the design and review of the protocol in parallel with in-depth sociological research on (potential) participants and users of the research outcomes. These features were designed to maximize the power of the resource to identify, replicate or control for genetic factors associated with a wide spectrum of illnesses and risk factors, both now and in the future.
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GWAS using siblings have been previously limited by available data, but are now feasible by combining well-established family studies with recent large biobanks.
“GWAS using siblings (within-sibship GWAS) (Fig. 2) have been previously limited by available data, but are now feasible by combining well-established family studies with recent large biobanks that incidentally or by design contain thousands of sibships35–39.”
From Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects (2022) · cites this paper as [37]
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- Authors
- Smith, B. H., Campbell, A., Linksted, P., Fitzpatrick, B., Jackson, C., Kerr, S. M., Deary, I. J., MacIntyre, D. J., Campbell, H., McGilchrist, M., Hocking, L. J., Wisely, L., Ford, I., Lindsay, R. S., Morton, R., Palmer, C. N. A., Dominiczak, A. F., Porteous, D. J., & Morris, A. D.
- Affiliations
- University of Dundee (GB)
- University of St Andrews (GB)
- Corresponding author
- Smith, Blair H
- ORCID
- Venue
- International Journal of Epidemiology
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-07-10
- Volume
- 42
- Issue
- 3
- Pages
- 689-700
- ISSN
- 0300-5771 (ISSN-L)
- 1464-3685
- OpenAlex
- W2111865787
- Cited by
- 401
- References
- 4
- Citations by year
- 2026: 24 · 2025: 27 · 2024: 39 · 2023: 36 · 2022: 50 · 2021: 52 · 2020: 35 · 2019: 39 · 2018: 29 · 2017: 24 · 2016: 16 · 2015: 20 · 2014: 7 · 2013: 3
- FWCI
- 5.79
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- International Journal of Epidemiology (publishedVersion)
- PubMed (publishedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Scottish Government (CZD/16/6)
- Scottish Funding Council
- Medical Research Council (MR/K026992/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
- Keywords
- Generation Scotland: Scottish Family Health Study, broad consent, cognitive function, personality traits, mental health, genetic risk factors
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Cognition, DNA, Family Health, Female, Humans, Male, Medical Record Linkage, Mental Health, Middle Aged, Pedigree, Phenotype, Surveys and Questionnaires, Risk Factors, Scotland, Socioeconomic Factors, Cohort Studies, Molecular Epidemiology, Genetic Predisposition to Disease, Genetic Research, Young Adult
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