Genetic predictors of participation in optional components of UK Biobank
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Abstract
Large studies such as UK Biobank are increasingly used for GWAS and Mendelian randomization (MR) studies. However, selection into and dropout from studies may bias genetic and phenotypic associations. We examine genetic factors affecting participation in four optional components in up to 451,306 UK Biobank participants. We used GWAS to identify genetic variants associated with participation, MR to estimate effects of phenotypes on participation, and genetic correlations to compare participation bias across different studies. 32 variants were associated with participation in one of the optional components ( P < 6 × 10 −9 ), including loci with links to intelligence and Alzheimer’s disease. Genetic correlations demonstrated that participation bias was common across studies. MR showed that longer educational duration, older menarche and taller stature increased participation, whilst higher levels of adiposity, dyslipidaemia, neuroticism, Alzheimer’s and schizophrenia reduced participation. Our effect estimates can be used for sensitivity analysis to account for selective participation biases in genetic or non-genetic analyses.
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With individual level data and a continuous exposure, non-linear Mendelian randomization can be applied to estimate whether the causal effect of the exposure on the outcome varies across different levels of the exposure.
“With individual level data and a continuous exposure, non-linear MR can be applied to estimate whether the causal effect of the exposure on the outcome varies across different levels of the exposure.30,108”
From Mendelian randomization (2022) · cites this paper as [30]
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Self-citationProteomic analysis of the actin cortex in interphase and mitosis
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Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation
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Understanding Factors That Cause Tinnitus: A Mendelian Randomization Study in the UK Biobank
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Exploring neural correlates of behavioral and academic resilience among children in poverty
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Biobanking in everyday clinical practice in psychiatry—The Munich Mental Health Biobank
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Pervasive biases in proxy GWAS based on parental history of Alzheimer’s diseasePreprint
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Dementia prevention: the Mendelian randomisation perspective
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Specificity of Psychiatric Polygenic Risk Scores and Their Effects on Associated Risk Phenotypes
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Genetic and neural bases of the neuroticism general factor
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Impact of selection bias on polygenic risk score estimates in healthcare settings
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Cross-sectional analysis of educational inequalities in primary prevention statin use in UK Biobank
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GWAS on birth year infant mortality rates provides evidence of recent natural selection
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Reduced reproductive success is associated with selective constraint on human genesPreprint
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Using Counterfactual Worlds to Triangulate Evidence in the Real World
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Dissecting unique and common variance across body and brain health indicators using age prediction
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Correcting for volunteer bias in GWAS increases SNP effect sizes and heritability estimates
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Self-citationIntegration of Real‐World Data and Genetics to Support Target Identification and Validation
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Determining the stability of genome-wide factors in BMI between ages 40 to 69 years
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Using instruments for selection to adjust for selection bias in Mendelian randomization
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Longer sleep improves cardiovascular outcomes: time to make sleep a priority
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Big data and the goal of personalized health interventions
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BMI and well-being in people of East Asian and European ancestry: a Mendelian randomisation study
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Life course plasma metabolomic signatures of genetic liability to Alzheimer’s disease
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Use of genetic correlations to examine selection bias
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A cautionary tale for Alzheimer’s disease GWAS by proxy
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- Authors
- Tyrrell, J., Zheng, J., Beaumont, R., Hinton, K., Richardson, T. G., Wood, A. R., Davey Smith, G., Frayling, T. M., & Tilling, K.
- Affiliations
- University of Exeter (GB)
- University of Bristol (GB)
- Corresponding author
- Tyrrell, Jessica
- Tilling, Kate
- ORCID
- Venue
- Nature Communications
- Published
- 2021-02-09
- Volume
- 12
- Issue
- 1
- Pages
- 886-886
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC7873270
- OpenAlex
- W3119247746
- Cited by
- 162
- References
- 43
- Citations by year
- 2026: 14 · 2025: 16 · 2024: 30 · 2023: 36 · 2022: 43 · 2021: 15 · 2020: 8
- FWCI
- 17.65
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Explore Bristol Research (acceptedVersion, cc-by)
- Bristol Research (University of Bristol) (acceptedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Open Research Exeter (University of Exeter) (submittedVersion, cc-by)
- Funders
- Academy of Medical Sciences (SBF004\1079)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Keywords
- research participation, UK Biobank, genetic correlation, Mendelian randomization, educational attainment, age at menarche, height, adiposity, dyslipidemia, neuroticism, Alzheimer's disease, schizophrenia
- MeSH terms
- Community Participation, Female, United Kingdom, Humans, Male, Middle Aged, Risk Factors, Genetic Variation, Selection Bias, Biological Specimen Banks, Genetic Predisposition to Disease, Genome-Wide Association Study, Genetic Loci, Mendelian Randomization Analysis
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