ArticleeGastroenterology2024
Incorporating biological and clinical insights into variant choice for Mendelian randomisation: examples and principles.
Article in eGastroenterology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The janus-faced role of uric acid in COPD: evidence from East Asians population.NPJ primary care respiratory medicine · 2026Pooled it
- Integrative genome-wide analysis unveils the genetic landscape of gallstone disease and highlights novel loci with therapeutic potential.BMJ open gastroenterology · 2025Pooled it
- Proteomic Pathways Linking Type 2 Diabetes Genetic Clusters to Cardiovascular Diseases: A Network Mendelian Randomisation Study.Diabetes, obesity & metabolism · 2026Article
- Genetic associations between resting-state brain functional networks and cancer risk: A bidirectional Mendelian randomization study.Chinese medical journal · 2026Article
- Risk of bias assessment for Mendelian randomisation studies: a guide.European journal of epidemiology · 2026Article
- A Principled Framework for Mendelian Randomization in Oral Health Research.Journal of periodontal research · 2026Article
- Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization.American journal of human genetics · 2026Review
- Evaluating the Impact of Putative Metformin Targets on Cancer Outcomes: A Drug-Target Mendelian Randomization Study.Diabetes, obesity & metabolism · 2026Article
- Assessing the causal impact of leisure-time physical activity and screen time on lifespan: a Mendelian randomization study.European review of aging and physical activity : official journal of the European Group for Research into Elderly and Physical Activity · 2026Article
- Intra-pancreatic fat deposition links to widespread systemic health risks: UK Biobank prospective cohort study.Insights into imaging · 2026Article
- Genome-wide association and integrative analyses of relative handgrip strength identify polygenic determinants of gastrointestinal disorder susceptibility.BMC gastroenterology · 2026Article
- Article
- Genetically predicted triglyceride levels and endometriosis risk: Mendelian randomization with exploratory multi-omics analyses.PloS one · 2026Article
- Global, regional, and national burden of bladder cancer from 1990 to 2021 with projections to 2050: insights from the global burden of disease study and Mendelian randomization analysis.Infectious agents and cancer · 2025Article
- DNA methylation and bronchiectasis: a Mendelian randomization analysis to investigate causal link and therapeutic target.Epigenetics · 2025Article
- Age-specific childhood obesity and adult cholelithiasis: association and shared transcriptomic bases.International journal of obesity (2005) · 2025Article
- Prospects of Mendelian randomization in hepatology: a comprehensive literature review with practice guidance.Clinical and molecular hepatology · 2025Review
- Helicobacter pylori, peptic ulcer disease, and colorectal cancer: a prospective study with genome-wide interaction analysis and Mendelian randomization.Infectious agents and cancer · 2025Article
- Gut microbiota constituents may affect hypertrophic scarring risk through interaction with specific immune cells in a two-step, two-sample Mendelian randomization study.Scientific reports · 2025Article
- Mendelian randomization in cancer research: opportunities and challenges.Infectious agents and cancer · 2025Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Mendelian randomisation is an accessible and valuable epidemiological approach to provide insight into the causal nature of relationships between risk factor exposures and disease outcomes. However, if performed without critical thought, we may simply have replaced one set of implausible assumptions (no unmeasured confounding or reverse causation) with another set of implausible assumptions (no pleiotropy or other instrument invalidity). The most critical decision to avoid pleiotropy is which genetic variants to use as instrumental variables. Two broad strategies for instrument selection are a biologically motivated strategy and a genome-wide strategy; in general, a biologically motivated strategy is preferred. In this review, we discuss various ways of implementing a biologically motivated selection strategy: using variants in a coding gene region for the exposure or a gene region that encodes a regulator of exposure levels, using a positive control variable and using a biomarker as the exposure rather than its behavioural proxy. In some cases, a genome-wide analysis can provide important complementary evidence, even when its reliability is questionable. In other cases, a biologically-motivated analysis may not be possible. The choice of genetic variants must be informed by biological and functional considerations where possible, requiring collaboration to combine biological and clinical insights with appropriate statistical methodology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.