ReviewAmerican journal of human genetics2023
Using genetic association data to guide drug discovery and development: Review of methods and applications.
Review in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 4 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
74 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.Nature communications · 2025Pooled it
- Exploring the Relationship Between Antipsychotic Drug Target Genes and Epilepsy: Evidence From Food and Drug Administration Adverse Event Reporting System Database and Mendelian Randomization.Brain and behavior · 2025Pooled it
- Mendelian Randomization Analysis of Genetic Proxies of Thiazide Diuretics and the Reduction of Kidney Stone Risk.JAMA network open · 2023Pooled it
- Pooled it
- Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights From an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets.Annals of human genetics · 2026 · on this mapObservational
- Cross-population proteome-wide mendelian randomization study identifies likely causal proteins for cardiovascular diseases.Molecular genetics and genomics : MGG · 2026Article
- Identifying druggable proteins of the association of chronotype on breast cancer using Mendelian randomization.Communications medicine · 2026Article
- An integrative mendelian randomisation and drug mechanism framework for target prioritisation and therapeutic repurposing in major depression.Translational psychiatry · 2026Article
- Moving Mendelian Randomization From Traditional Risk Factors to Molecular Targets for Drug Development and Clinical Trials in Nephrology.Kidney international reports · 2026Review
- Widespread genetic effect heterogeneity impacts bias and power in nonlinear Mendelian randomization.medRxiv : the preprint server for health sciences · 2026Article
- Leveraging large-scale biobanks for therapeutic target discovery.HGG advances · 2026Article
- Erk5-mediated microglial ferroptosis drives ischemic white matter damage via the Nfatc4-Clptm1l axis.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Genetic correlations among diaphragmatic, femoral, inguinal, ventral, and umbilical hernias and identification of their candidate genes.International journal of surgery (London, England) · 2026Article
- Bidirectional Mendelian Randomization Suggests Causal Effects of 731 Immunophenotypes on Vitiligo Pathogenesis.Clinical, cosmetic and investigational dermatology · 2026Article
- Menopausal hormone therapy and risk of neuropsychiatric disease: a drug target Mendelian randomisation study.npj women's health · 2026Article
- Causal Effects of Atrial Fibrillation and Warfarin Use on Osteoporosis Risk: A Two-Sample Mendelian Randomization Analysis.International journal of genomics · 2026Article
- Genetic insights revealed ADRB1 as potential target for clear cell renal cell carcinoma.Frontiers in pharmacology · 2026Article
- Integrating Single-Cell Transcriptome-Wide Mendelian Randomization and Differentially Expressed Gene Analyses to Prioritize Dynamic Immune-Related Drug Targets for Cancers.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Immune cell-based transcriptomic Mendelian randomization and colocalization study on type 1 diabetes.BMC medicine · 2025Article
- Integrative Proteome- and Phenome-Wide Assessment Uncovers Causal Protein Drivers and Drug Targets for Heterogeneous Kidney Diseases.medRxiv : the preprint server for health sciences · 2025Article
14 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
14 authors.
Funding
Abstract
Evidence on the validity of drug targets from randomized trials is reliable but typically expensive and slow to obtain. In contrast, evidence from conventional observational epidemiological studies is less reliable because of the potential for bias from confounding and reverse causation. Mendelian randomization is a quasi-experimental approach analogous to a randomized trial that exploits naturally occurring randomization in the transmission of genetic variants. In Mendelian randomization, genetic variants that can be regarded as proxies for an intervention on the proposed drug target are leveraged as instrumental variables to investigate potential effects on biomarkers and disease outcomes in large-scale observational datasets. This approach can be implemented rapidly for a range of drug targets to provide evidence on their effects and thus inform on their priority for further investigation. In this review, we present statistical methods and their applications to showcase the diverse opportunities for applying Mendelian randomization in guiding clinical development efforts, thus enabling interventions to target the right mechanism in the right population group at the right time. These methods can inform investigators on the mechanisms underlying drug effects, their related biomarkers, implications for the timing of interventions, and the population subgroups that stand to gain the most benefit. Most methods can be implemented with publicly available data on summarized genetic associations with traits and diseases, meaning that the only major limitations to their usage are the availability of appropriately powered studies for the exposure and outcome and the existence of a suitable genetic proxy for the proposed intervention.
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What Socratic holds
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 Socratic graph.