ArticleClinical pharmacology and therapeutics2023
Characterization of CYP2D6 Pharmacogenetic Variation in Sub-Saharan African Populations.
Article in Clinical pharmacology and therapeutics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Quantifying Sample Representation in Global Pharmacogenomic Studies of Major Depressive Disorder: A Systematic Review.Clinical and translational science · 2025Pooled it
- Clinical Pharmacogenetic Testing and Application: 2024 Updated Guidelines by the Korean Society for Laboratory Medicine.Annals of laboratory medicine · 2025Guideline
- Advancing genomic medicine in Nigeria: research progress, clinical translation and policy priorities.Journal of community genetics · 2026Review
- Review
- Does Next Generation Sequencing (NGS)-Based CYP2D6 Sequencing Improve Genotype-Phenotype Concordance in Tamoxifen-Treated Patients?Clinical pharmacology and therapeutics · 2026Article
- Article
- The Burden of Adverse Drug Reactions in Africa in the Context of Pharmacogenetics-Based Clinical Guidelines.Clinical pharmacology and therapeutics · 2026Article
- Strengthening Pharmacogenomics Implementation in Africa: Challenges and Opportunities - A Narrative Review.Health science reports · 2026Article
- Digital health in clinical pharmacy practice: transforming precision medicine and pharmacometrics in Africa.Frontiers in pharmacology · 2026Review
- Integrating CRISPR functional genomics with admixture-aware psychotropic pharmacogenetics in Brazil.Frontiers in pharmacology · 2026Review
- Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania.PLoS neglected tropical diseases · 2025Article
- Opportunities and Challenges of Population Pharmacogenomics.Annals of human genetics · 2025Review
- Characterization of the complex TB pharmacogenomic landscape in Africa using bioinformatic tools.Briefings in bioinformatics · 2025Article
- Insights from the Biorepository and Integrative Genomics pediatric resource.Nature communications · 2025Article
- Analysis ofIranian journal of medical sciences · 2025Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort.medRxiv : the preprint server for health sciences · 2025Article
- StarTRAC-Frontiers in pharmacology · 2025Article
- CYP2D6 Pharmacogenetics in Nigerian Sickle Cell Disease: Phase 1 of Implementing Pharmacogenomics Testing for Effective Care and Treatment in Africa (iPROTECTA) program.Gates open research · 2025Article
- High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.Genome research · 2024Article
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 9 countries.
Funding
Abstract
Cytochrome P450 2D6 (CYP2D6) is a key enzyme in drug response owing to its involvement in the metabolism of ~ 25% of clinically prescribed medications. The encoding CYP2D6 gene is highly polymorphic, and many pharmacogenetics studies have been performed worldwide to investigate the distribution of CYP2D6 star alleles (haplotypes); however, African populations have been relatively understudied to date. In this study, the distributions of CYP2D6 star alleles and predicted drug metabolizer phenotypes-derived from activity scores-were examined across multiple sub-Saharan African populations based on bioinformatics analysis of 961 high-depth whole genome sequences. This was followed by characterization of novel star alleles and suballeles in a subset of the participants via targeted high-fidelity Single-Molecule Real-Time resequencing (Pacific Biosciences). This study revealed varying frequencies of known CYP2D6 alleles and predicted phenotypes across different African ethnolinguistic groups. Twenty-seven novel CYP2D6 star alleles were predicted computationally and two of them were further validated. This study highlights the importance of studying variation in key pharmacogenes such as CYP2D6 in the African context to better understand population-specific allele frequencies. This will aid in the development of better genotyping panels and star allele detection approaches with a view toward supporting effective implementation of precision medicine strategies in Africa and across the African diaspora.
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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.