Evidence map›Paper›PMID 39167758›Full record

ReviewJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2024

Causal inference in health and disease: a review of the principles and applications of Mendelian randomization.

Catherine E Lovegrove, Sarah A Howles, Dominic Furniss, Michael V Holmes

Abstract readReview
In one paragraph

Review in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

39 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Multi-omics integration identifiesTranslational andrology and urology · 2026
    Article
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  8. Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Catherine E LovegroveNuffield Department of Surgical Sciences, University of Oxford, Oxford OX3 9DU, United Kingdom.ORCID 0000-0001-8557-609X
Sarah A HowlesNuffield Department of Surgical Sciences, University of Oxford, Oxford OX3 9DU, United Kingdom.ORCID 0000-0001-6342-0895
Dominic FurnissNuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford OX3 7LD, United Kingdom.
Michael V HolmesMedical Research Council, Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, United Kingdom.

Funding

Kidney Research UK RP_030_20180306Medical Research Council MR/W03168X/1National Institute for Health Research (NIHR) Oxford Biomedical Research CentreThe Urology FoundationWellcome TrustWellcome Trust 204826/z/16/z
6 · The paper itself

Abstract

Mendelian randomization (MR) is a genetic epidemiological technique that uses genetic variation to infer causal relationships between modifiable exposures and outcome variables. Conventional observational epidemiological studies are subject to bias from a range of sources; MR analyses can offer an advantage in that they are less prone to bias as they use genetic variants inherited at conception as "instrumental variables", which are proxies of an exposure. However, as with all research tools, MR studies must be carefully designed to yield valuable insights into causal relationships between exposures and outcomes, and to avoid biased or misleading results that undermine the validity of the causal inferences drawn from the study. In this review, we outline Mendel's laws of inheritance, the assumptions and principles that underlie MR, MR study designs and methods, and how MR analyses can be applied and reported. Using the example of serum phosphate concentrations on liability to kidney stone disease we illustrate how MR estimates may be visualized and, finally, we contextualize MR in bone and mineral research including exemplifying how this technique could be employed to inform clinical studies and future guidelines concerning BMD and fracture risk. This review provides a framework to enhance understanding of how MR may be used to triangulate evidence and progress research in bone and mineral metabolism as we strive to infer causal effects in health and disease.

Indexed as

Mendelian Randomization AnalysisCausalityHumansepidemiologygenetic association studieshuman association studiesmendelian randomizationtherapeutics

Identifiers

PMID39167758
PMCPMC11523132

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LicenceCC BY
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Registered trials

None linked

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.