ArticleThe pharmacogenomics journal2015
High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.
Article in The pharmacogenomics journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 65 citations in OpenAlex.
- Metabolic Effects of Aripiprazole and Olanzapine Multiple-Dose Treatment in a Randomised Crossover Clinical Trial in Healthy Volunteers: Association with Pharmacogenetics.Advances in therapy · 2021Trial
- Influence of CYP2B6 activity score on the pharmacokinetics and safety of single dose efavirenz in healthy volunteers.The pharmacogenomics journal · 2020Trial
- Advancing Personalized Medicine in Psychiatry: A Descriptive Pilot Study Integrating Pharmacogenetics and Pharmacokinetics in Long-Acting Antipsychotic Treatment.Pharmaceutics · 2026Article
- Pharmacogenetic Biomarkers of Ibrutinib Response and Toxicity in Chronic Lymphocytic Leukemia: Insights from an Observational Study.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Epigenetics in pharmacogenes encoding metabolizing enzymes of second-generation antipsychotics used in schizophrenia and its clinical implications.Frontiers in pharmacology · 2025Review
- Role of pharmacogenomics for prevention of hypersensitivity reactions induced by aromatic antiseizure medications.Frontiers in pharmacology · 2025Review
- Ziprasidone population pharmacokinetics and co-medication effects in Chinese patients.Naunyn-Schmiedeberg's archives of pharmacology · 2024Article
- CYP3A4*1B but Not CYP3A5*3 as Determinant of Long-Term Tacrolimus Dose Requirements in Spanish Solid Organ Transplant Patients.International journal of molecular sciences · 2024Article
- Pharmacokinetics, Pharmacodynamics, and Side Effects of Midazolam: A Review and Case Example.Pharmaceuticals (Basel, Switzerland) · 2024Review
- CYP3A4 and CYP3A5 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.The Journal of molecular diagnostics : JMD · 2023Review
- Identification of Drugs Acting as Perpetrators in Common Drug Interactions in a Cohort of Geriatric Patients from Southern Italy and Analysis of the Gene Polymorphisms That Affect Their Interacting Potential.Geriatrics (Basel, Switzerland) · 2023Article
- Importance of Pharmacogenetics and Drug-Drug Interactions in a Kidney Transplanted Patient.Life (Basel, Switzerland) · 2023Article
- Bortezomib Pharmacogenetic Biomarkers for the Treatment of Multiple Myeloma: Review and Future Perspectives.Journal of personalized medicine · 2023Review
- Interplay of Vitamin D and CYP3A4 Polymorphisms in Endocrine Disorders and Cancer.Endocrinology and metabolism (Seoul, Korea) · 2022Review
- Pharmacogenomics of Alzheimer's Disease: Novel Strategies for Drug Utilization and Development.Methods in molecular biology (Clifton, N.J.) · 2022Article
- The Influence of CYP3A4 Genetic Polymorphism and Proton Pump Inhibitors on Osimertinib Metabolism.Frontiers in pharmacology · 2022Article
- Why We Need to Take a Closer Look at Genetic Contributions to CYP3A Activity.Frontiers in pharmacology · 2022Review
- Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions.International journal of molecular sciences · 2021Review
- Generating a Precision Endoxifen Prediction Algorithm to Advance Personalized Tamoxifen Treatment in Patients with Breast Cancer.Journal of personalized medicine · 2021Review
- Important Pharmacogenetic Information for Drugs Prescribed During the SARS-CoV-2 Infection (COVID-19).Clinical and translational science · 2020Review
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have been reported as rare events, and the first demonstration of a CYP3A4 protein lacking functional activity is caused by CYP3A4*20 allele. Here we characterized the world distribution and origin of CYP3A4*20 mutation. CYP3A4*20 was determined in more than 4000 individuals representing different populations, and haplotype analysis was performed using CYP3A polymorphisms and microsatellite markers. CYP3A4*20 allele was present in 1.2% of the Spanish population (up to 3.8% in specific regions), and all CYP3A4*20 carriers had a common haplotype. This is compatible with a Spanish founder effect and classifies CYP3A4 as a polymorphic enzyme. This constitutes the first description of a CYP3A4 loss-of-function variant with high frequency in a population. CYP3A4*20 results together with the key role of CYP3A4 in drug metabolism support screening for rare CYP3A4 functional alleles among subjects with adverse drug events in certain populations.
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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.