ArticleGenome medicine2017
Genetic variation in human drug-related genes.
Article in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 3 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
77 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Comprehensive Characterization of Antidepressant Pharmacogenetics: A Systematic Review of Studies in Major Depressive Disorder.Clinical and translational science · 2025Pooled it
- Pharmacogenomic scores in psychiatry: systematic review of current evidence.Translational psychiatry · 2024Pooled it
- Population genetic considerations for using biobanks as international resources in the pandemic era and beyond.BMC genomics · 2021Pooled it
- Does Next Generation Sequencing (NGS)-Based CYP2D6 Sequencing Improve Genotype-Phenotype Concordance in Tamoxifen-Treated Patients?Clinical pharmacology and therapeutics · 2026Article
- Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans.Clinical pharmacology and therapeutics · 2026Article
- Advancing Wider Implementation of Multi-regional Clinical Trials in East Asia.Therapeutic innovation & regulatory science · 2026Review
- A multi-omics integrative analyses revealsFrontiers in pharmacology · 2026Article
- Clinical Implementation of Pharmacogenomics and Drug-Drug Interaction Screening in a German Academic Teaching Hospital and Outpatient Follow-Up.Clinical pharmacology and therapeutics · 2026Article
- Pathway-Specific Polygenic Scores for Predicting Clinical Lithium Treatment Response in Patients With Bipolar Disorder.Biological psychiatry global open science · 2025Article
- Opportunities and Challenges of Population Pharmacogenomics.Annals of human genetics · 2025Review
- Genetic Variants in Oxidative Stress-Related Genes and Their Impact on Prognosis and Treatment Response in Chronic Myeloid Leukemia Patients.International journal of molecular sciences · 2025Article
- Genetic Variation in Drug Targets: Are We Ready for the Era of Precision Medicinal Chemistry?ACS medicinal chemistry letters · 2025Article
- Pharmacometabolomics Detects Various Unreported Metoprolol Metabolites in Urine of (Potential) Living Kidney Donors and Kidney Transplant Recipients.Clinical pharmacokinetics · 2025Article
- Implementation of pre-emptive testing of a pharmacogenomic panel in clinical practice: Where do we stand?British journal of clinical pharmacology · 2025Review
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Pharmacogenetic Information on Drug Labels of the Italian Agency of Medicines (AIFA): Actionability and Comparison Across Other Regulatory Agencies.Clinical and translational science · 2025Article
- From Pathophysiology to Practice: Evolving Pharmacological Therapies, Clinical Complications, and Pharmacogenetic Considerations in Portal Hypertension.Metabolites · 2025Review
- Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population.Frontiers in immunology · 2025Article
- Comprehensive Evaluation of Drug-Related Problems and Pharmacotherapy Patterns in Non-Hodgkin's Lymphoma Patients in Yemen.Blood and lymphatic cancer : targets and therapy · 2025Article
- Pharmacogenetic DPYD allele variant frequencies: A comprehensive analysis across an ancestrally diverse Iranian population.Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences · 2024Article
17 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
5 authors.
Funding
Abstract
backgroundVariability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic variation in drug targets is typically less studied.
methodsBased on 60,706 human exomes from the ExAC dataset, we performed an in-depth computational analysis of the prevalence of functional variants in 806 drug-related genes, including 628 known drug targets. We further computed the likelihood of 1236 FDA-approved drugs to be affected by functional variants in their targets in the whole ExAC population as well as different geographic sub-populations.
resultsWe find that most genetic variants in drug-related genes are very rare (f < 0.1%) and thus will likely not be observed in clinical trials. Furthermore, we show that patient risk varies for many drugs and with respect to geographic ancestry. A focused analysis of oncological drug targets indicates that the probability of a patient carrying germline variants in oncological drug targets is, at 44%, high enough to suggest that not only somatic alterations but also germline variants carried over into the tumor genome could affect the response to antineoplastic agents.
conclusionsThis study indicates that even though many variants are very rare and thus likely not observed in clinical trials, four in five patients are likely to carry a variant with possibly functional effects in a target for commonly prescribed drugs. Such variants could potentially alter drug efficacy.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.