ArticleHuman genetics2020
Epidemiology, genetic epidemiology and Mendelian randomisation: more need than ever to attend to detail.
Article in Human genetics, 2020. 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.
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
35 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Association of birth weight with cancer risk: a dose-response meta-analysis and Mendelian randomization study.Journal of cancer research and clinical oncology · 2023Pooled it
- Reporting methodological issues of the mendelian randomization studies in health and medical research: a systematic review.BMC medical research methodology · 2022Pooled it
- Causal effects of gestational hypertension on women's health: A Mendelian randomization analysis.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Towards scalable biomarker discovery in posttraumatic stress disorder: triangulating genomic and phenotypic evidence from a health system biobank.Molecular psychiatry · 2026Article
- Using Negative Control Outcomes to Detect Selection Bias in Mendelian Randomization Studies.Statistics in medicine · 2026Article
- Mendelian randomization in ovarian research: applications in PCOS, ovarian aging, and assisted reproductive technology.Journal of ovarian research · 2026Review
- Circulating causal protein networks linked to future risk of myocardial infarction.Nature communications · 2025Article
- From Hypothyroidism to Coronary Heart Disease: Unraveling the Lipid Profile Link: A Mendelian Randomization Study.Journal of the Endocrine Society · 2025Article
- Unlocking mental health insights with UK Biobank data: Past use and future opportunities.Psychological medicine · 2025Review
- Article
- Exploring the causal role of the human gut microbiome in endometrial cancer: a Mendelian randomization approach.Scientific reports · 2025Article
- Effect of metoprolol exposure following myocardial infarction on future cardiovascular events: a Mendelian randomization study.European journal of clinical pharmacology · 2025Article
- Investigating causal effects of income on health using two-sample Mendelian randomisation.BMC global and public health · 2025Article
- Bidirectional relationship between epigenetic age and stroke, dementia, and late-life depression.Nature communications · 2025Article
- Multiplicative versus additive modelling of causal effects using instrumental variables for survival outcomes - a comparison.Statistical methods in medical research · 2025Article
- Bidirectional relationship between epigenetic age and brain health events.Research square · 2024Article
- Two sample Mendelian Randomisation using an outcome from a multilevel model of disease progression.European journal of epidemiology · 2024Article
- Sjögren's Disease and Oral Health: A Genetic Instrumental Variable Analysis.Journal of dental research · 2024Observational
- Association of Poor Oral Health With Neuroimaging Markers of White Matter Injury in Middle-Aged Participants in the UK Biobank.Neurology · 2024Article
- Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions.Genome medicine · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the current era, with increasing availability of results from genetic association studies, finding genetic instruments for inferring causality in observational epidemiology has become apparently simple. Mendelian randomisation (MR) analyses are hence growing in popularity and, in particular, methods that can incorporate multiple instruments are being rapidly developed for these applications. Such analyses have enormous potential, but they all rely on strong, different, and inherently untestable assumptions. These have to be clearly stated and carefully justified for every application in order to avoid conclusions that cannot be replicated. In this article, we review the instrumental variable assumptions and discuss the popular linear additive structural model. We advocate the use of tests for the null hypothesis of 'no causal effect' and calculation of the bounds for a causal effect, whenever possible, as these do not rely on parametric modelling assumptions. We clarify the difference between a randomised trial and an MR study and we comment on the importance of validating instruments, especially when considering them for joint use in an analysis. We urge researchers to stand by their convictions, if satisfied that the relevant assumptions hold, and to interpret their results causally since that is the only reason for performing an MR analysis in the first place.
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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.