SynthesisNature communications2018
Phenome-wide association studies across large population cohorts support drug target validation.
Synthesis in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 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
113 citing papers in PubMed, 4 syntheses or guidelines pooled it, 192 citations in OpenAlex.
- Impact of PNPLA3 I148M on Drug-Induced Hepatocellular Liver Injury: A Systematic Review and Meta-Analysis.Liver international : official journal of the International Association for the Study of the Liver · 2025Pooled it
- The landscape of the methodology in drug repurposing using human genomic data: a systematic review.Briefings in bioinformatics · 2024Pooled it
- Mendelian randomization and clinical trial evidence supports TYK2 inhibition as a therapeutic target for autoimmune diseases.EBioMedicine · 2023Pooled it
- Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics.Science translational medicine · 2020Pooled it
- Enhanced pain relief with guanfacine as an adjuvant for trigeminal nerve blocks: insights from a PheWAS-guided randomized controlled study.Pain medicine (Malden, Mass.) · 2025Trial
- Locus-specific stratification and prioritization unveil genetic risk mechanism underlying complex diseases.Nature communications · 2026Article
- EpiSNPdb: A Comprehensive Database of Genetic Epistasis Across Multiple Cancer Types.Current issues in molecular biology · 2026Article
- The potential effect and pathway of valsartan: genome-wide and phenome-wide association study from UK Biobank data.Pharmacogenetics and genomics · 2026Article
- A genomic-led strategy to anticipate drug safety effects.PLoS genetics · 2026Article
- Genetic and epidemiological evidence linking respiratory and musculoskeletal diseases: shared risk factors and intervention windows.Respiratory research · 2026Article
- Mitochondria-Related Genome-Wide Mendelian Randomization Identifies Putatively Genes for Chronic Fatigue.Molecular neurobiology · 2026Article
- Article
- Medea: An omics AI agent for therapeutic discovery.bioRxiv : the preprint server for biology · 2026Article
- Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention.American journal of human genetics · 2026Article
- PheCode-guided multi-modal topic modeling of electronic health records improves disease incidence prediction and GWAS discovery from UK Biobank.Briefings in bioinformatics · 2026Article
- A genetics-guided integrative framework for drug repurposing: identifying antihypertensive drugs for type 2 diabetes.NPJ drug discovery · 2026Article
- Robust replication of associations across patient-mediated and provider-sourced EHR data in thenpj digital public health · 2026Article
- A one-shot, lossless algorithm for cross-cohort learning in mixed-outcomes analysis.Patterns (New York, N.Y.) · 2025Article
- Fifteen Years of PNPLA3: Transforming Hepatology Through Human Genetics.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Identification of novel biomarkers and drug targets for frailty-related skeletal muscle aging: a multi-omics study.QJM : monthly journal of the Association of Physicians · 2025Article
53 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
34 authors at 10 institutions in 4 countries.
Funding
Abstract
Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying alternative indications, or predicting adverse drug events (ADEs). Here, we select 25 single nucleotide polymorphisms (SNPs) linked through genome-wide association studies (GWAS) to 19 candidate drug targets for common disease indications. We interrogate these SNPs by PheWAS in four large cohorts with extensive health information (23andMe, UK Biobank, FINRISK, CHOP) for association with 1683 binary endpoints in up to 697,815 individuals and conduct meta-analyses for 145 mapped disease endpoints. Our analyses replicate 75% of known GWAS associations (P < 0.05) and identify nine study-wide significant novel associations (of 71 with FDR < 0.1). We describe associations that may predict ADEs, e.g., acne, high cholesterol, gout, and gallstones with rs738409 (p.I148M) in PNPLA3 and asthma with rs1990760 (p.T946A) in IFIH1. Our results demonstrate PheWAS as a powerful addition to the toolkit for drug discovery.
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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.