UK Biobank: Opportunities for cardiovascular research
Open accessAbstract
Cardiovascular diseases are a major cause of morbidity and mortality, accounting for 45% of all deaths in European countries in 20161 and almost a third of deaths worldwide in 2013.2 A similar pattern is observed in the UK where cardiovascular diseases were responsible for 27% of deaths in 2014, with coronary heart disease resulting in the largest number of deaths attributable to a single cause (n = ∼69 000) whilst stroke is the third biggest cause (n = ∼39 000).3 Although age-standardized cardiovascular disease mortality rates are decreasing worldwide, the total deaths and burden as measured through disability-adjusted life years of cardiovascular diseases are increasing.4 , 5 Furthermore, in the UK, cardiovascular risk factors such as high blood pressure and high cholesterol are among the leading causes of disease burden.6 Epidemiological studies have historically played an essential role in identifying the causes and consequences of cardiovascular disease and have resulted in improvements in prevention and treatment. The seminal US-based Framingham Heart Study which recruited 5200 participants between 1948 and 1952, was integral in identifying a range of important risk factors for cardiovascular disease, such as high blood pressure, a high cholesterol level, cigarette smoking, obesity and physical inactivity, and consequently shifted the focus from management to preventative strategies for cardiovascular disease.7 This, together with findings from other epidemiological studies, such as the Seven Countries Study and the MONICA project,8 have been influential in leading to treatments for the primary and secondary prevention of cardiovascular events, most notably statins (that act to lower cholesterol levels), and anithypertensives.9 , 10 Epidemiological studies such as the Framingham Heart Study with moderate sample sizes are useful in detecting risk factors with large effects on common outcomes; however, they lack statistical power to reliably identify risk factors which have small to moderate effects or to assess associations with disease across subgroups of the population. The need for large sample sizes has led to collaborative efforts, such as the Prospective Studies Collaboration (an individual participant meta-analysis of data from 61 studies and more than a million participants11) that has demonstrated conclusively that a continuous increase in blood pressure corresponds with an increased risk of vascular death across all age groups (see Figure 1 that illustrates the importance of a large sample size (about 500 000 participants) for detecting this association).12 Sample size is also of particular importance in the current era of genome-wide association studies, where many investigations are aiming to detect either small effects from common variants or large effects from rare variants.13 Absolute risk of ischaemic heart disease mortality by usual systolic blood pressure and age at risk in 5000, 50 000, and 500 000 participants. Unpublished figure containing data from the Prospective Studies Collaboration, obtained through personal communication. CI, confidence interval; IHD, ischaemic heart disease. The causes of cardiovascular disease involve a complex interplay between predisposing genetic factors and lifestyle, environmental, and health-related exposures. Furthermore, cardiovascular risk factors are likely involved in the development of non-cardiovascular diseases, such as Alzheimer’s disease.14 Large prospective studies that collect an extensive range of exposures before the subsequent development of disease are essential in order to gain novel insights into the causes and consequences of cardiovascular (and non-cardiovascular) diseases. Although there are many cohort studies with large sample sizes and biological samples, they generally consist of less comprehensive data collection (see Table 1 for overview of major studies). In order to address this, UK Biobank was established as a prospective cohort study that combines a large sample size with a very wide range of data on exposures and outcomes in order to improve the prevention, diagnosis and treatment of diseases of middle and old age, including cardiovascular diseases such as heart disease and stroke.15–17 Characteristics of major population-based prospective cohort studies with biological samples for 100 000 or more participants Hospitalizations Clinic visits Laboratory testing results Pharmacy Dispensing Records Hospitalizations Clinic visits Laboratory testing results Pharmacy Dispensing Records cIMT, carotid intima-media thickness test; ECG, electrocardiogram; GWAS, genome-wide association study; IHD, ischaemic heart disease; NHS, National Health Service; SNP, single nucleotide polymorphism. Cohort-wide coverage unless otherwise stated. Characteristics of major population-based prospective cohort studies with biological samples for 100 000 or more participants Hospitalizations Clinic visits Laboratory testing results Pharmacy Dispensin
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Since 2006, the UK Biobank has amassed substantial data from participants encompassing environmental factors, lifestyle choices, sociodemographic information, overall health and well-being, and cognitive and physical assessments.
“Additionally, since 2006, the UK Biobank (UKB) [3,4,5] has amassed a substantial amount of data from participants, encompassing various fields such as environmental factors, lifestyle choices, sociodemographic information, overall health and well-being, as well as cognitive and physical assessments [6].”
From A Comprehensive Review on Synergy of Multi-Modal Data and AI Technologies in Medical Diagnosis (2024) · cites this paper as [4]
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Littlejohns, T. J., Holliday, J., Gibson, L. M., Garratt, S., Oesingmann, N., Alfaro-Almagro, F., Bell, J. D., Boultwood, C., Collins, R., Conroy, M. C., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15948-9 · Cited by 812 · see citing works
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“We have not generalised the overall descriptive findings to the UK population since the UK Biobank was established as an aetiological study rather than one aimed at population surveillance 8,9 .”
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- Authors
- Littlejohns, T. J., Sudlow, C., Allen, N. E., & Collins, R.
- Affiliations
- University of Oxford (GB)
- University of Edinburgh (GB)
- Corresponding author
- Littlejohns, Thomas J
- Venue
- European Heart Journal
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-05-20
- Volume
- 40
- Issue
- 14
- Pages
- 1158-1166
- ISSN
- 0195-668X (ISSN-L)
- 1522-9645
- PMC
- PMC6451771
- OpenAlex
- W2614948710
- Cited by
- 270
- References
- 30
- Citations by year
- 2026: 59 · 2025: 57 · 2024: 39 · 2023: 22 · 2022: 23 · 2021: 24 · 2020: 24 · 2019: 9 · 2018: 10 · 2017: 3
- FWCI
- 9.72
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- European Heart Journal (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, cc-by)
- Funders
- Wellcome Trust
- Medical Research Council
- Department of Health and the Scottish Government
- Welsh Assembly Government
- British Heart Foundation and Diabetes UK
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Health and Risk Factors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
- Keywords
- UK Biobank, cardiovascular disease, cardiovascular risk factors, sample size, statistical power, genome-wide association study, coronary artery disease, stroke, hypertension, hypercholesterolemia, cardiovascular disease prevention, cardiovascular mortality, Framingham Heart Study, rare variants, cardiovascular genomics
- MeSH terms
- Data Collection, Diagnostic Imaging, Genetic Markers, United Kingdom, Humans, Registries, Biomarkers, Information Storage and Retrieval, Biological Specimen Banks, Research Subjects, Biomedical Research
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