ReviewAnnual review of genomics and human genetics2018
Inferring Causal Relationships Between Risk Factors and Outcomes from Genome-Wide Association Study Data.
Review in Annual review of genomics and human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 168 papers, 10 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
168 citing papers in PubMed, 10 syntheses or guidelines pooled it.
- Potential drug targets for chronic obstructive pulmonary disease in the plasma proteome identified through Mendelian randomization.BMC pulmonary medicine · 2025Pooled it
- Causal relationship between immune mediators and parkinson's disease: A Mendelian randomization analysis.Scientific reports · 2025Pooled it
- Causal relationship between strenuous exercise and muscle injury: a Mendelian randomization study with dual samples.European journal of applied physiology · 2025Pooled it
- Risk factors for breast cancer: an umbrella review of observational cohort studies and causal relationship analysis.Frontiers in oncology · 2025Pooled it
- The association between hematologic traits and aneurysm-related subarachnoid hemorrhage: a two-sample mendelian randomization study.Scientific reports · 2024Pooled it
- Using genetics to explore complement C5 as a druggable protein in periodontitis.Frontiers in immunology · 2024Pooled it
- Cannabis use and the risk of primary open-angle glaucoma: a Mendelian randomization study.Scientific reports · 2023Pooled it
- Risk factors for human papillomavirus infection, cervical intraepithelial neoplasia and cervical cancer: an umbrella review and follow-up Mendelian randomisation studies.BMC medicine · 2023Pooled it
- Mendelian randomization indicates a causal contribution of type 2 diabetes to retinal vein occlusion.Frontiers in endocrinology · 2023Pooled it
- Increasing Comparability and Utility of Gut Microbiome Studies in Parkinson's Disease: A Systematic Review.Journal of Parkinson's disease · 2019Pooled it
- Reverse causal relationship between periodontitis and shortened telomere length: Bidirectional two-sample Mendelian random analysis.Frontiers in immunology · 2022Trial
- Exploring the impacts of type 2 diabetes and metformin use on Parkinson's disease: Mendelian randomization analysis and a national cohort study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Does Toxoplasma gondii infection have a causal impact on human psychopathology? A Mendelian randomization analysis.PLoS pathogens · 2026Article
- Mendelian randomization in ovarian research: applications in PCOS, ovarian aging, and assisted reproductive technology.Journal of ovarian research · 2026Review
- Association of Cathepsin Proteins with Alzheimer's Disease Risk: An Integrated Observational and Genetic Analysis.Neuromolecular medicine · 2026Observational
- Oral Microbiota and Cardiovascular Diseases: A Study Integrating Genome-Wide Association and 16S rRNA Sequence Analyses.International dental journal · 2026Article
- Machine learning-based genome-wide association analysis to construct a clinical decision model for severe neonatal jaundice.Translational pediatrics · 2026Article
- Causal and shared genetic insights into severe COVID-19 and idiopathic pulmonary fibrosis.iScience · 2026Article
- Single-cell transcriptome-wide Mendelian randomization during CD4Communications biology · 2026Article
- Large-Scale Proteomic Profiling of Incident Heart Failure and Its Subtypes in Older Adults.Circulation. Genomic and precision medicine · 2026Article
108 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
An observational correlation between a suspected risk factor and an outcome does not necessarily imply that interventions on levels of the risk factor will have a causal impact on the outcome (correlation is not causation). If genetic variants associated with the risk factor are also associated with the outcome, then this increases the plausibility that the risk factor is a causal determinant of the outcome. However, if the genetic variants in the analysis do not have a specific biological link to the risk factor, then causal claims can be spurious. We review the Mendelian randomization paradigm for making causal inferences using genetic variants. We consider monogenic analysis, in which genetic variants are taken from a single gene region, and polygenic analysis, which includes variants from multiple regions. We focus on answering two questions: When can Mendelian randomization be used to make reliable causal inferences, and when can it be used to make relevant causal inferences?
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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.