PharmVar GeneFocus: CYP4F2

Pablo Zubiaur; Cristina Rodríguez-Antona; Erin C Boone; Ann K Daly; Evangelia Eirini Tsermpini; Lubna Q Khasawneh; Katrin Sangkuhl; Jorge Duconge; Mariana R Botton; Jessica Savieo; Charity Nofziger; Michelle Whirl-Carrillo; Teri E Klein; Andrea Gaedigk

doi:10.1002/cpt.3405

PharmVar GeneFocus: CYP4F2

Clin Pharmacol Ther. 2024 Oct;116(4):963-975. doi: 10.1002/cpt.3405. Epub 2024 Aug 13.

Authors

Pablo Zubiaur¹, Cristina Rodríguez-Antona^{2

3}, Erin C Boone⁴, Ann K Daly⁵, Evangelia Eirini Tsermpini⁶, Lubna Q Khasawneh⁷, Katrin Sangkuhl⁸, Jorge Duconge⁹, Mariana R Botton^{10

11}, Jessica Savieo¹², Charity Nofziger¹³, Michelle Whirl-Carrillo⁸, Teri E Klein^{8

14}, Andrea Gaedigk^{4

15}

Affiliations

¹ Clinical Pharmacology Department, Hospital Universitario de La Princesa, Universidad Autónoma de Madrid (UAM) and Instituto de Investigación Sanitaria del Hospital Universitario de La Princesa (IP), Madrid, Spain.
² Pharmacogenomics and Tumor Biomarkers Group, Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM) CSIC/UAM, Madrid, Spain.
³ Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain.
⁴ Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Research Institute (CMRI), Kansas City, Missouri, USA.
⁵ Translational & Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
⁶ Department of Psychiatry, Dalhousie University, Halifax, Nova Scotia, Canada.
⁷ Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, UAE.
⁸ Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
⁹ Department of Pharmaceutical Sciences, School of Pharmacy, University of Puerto Rico - Medical Sciences Campus, San Juan, Puerto Rico, USA.
¹⁰ Transplant Immunology and Personalized Medicine Unit, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
¹¹ Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
¹² Department of Clinical Operations, AccessDx, Houston, Texas, USA.
¹³ PharmGenetix GmbH, Niederalm, Austria.
¹⁴ Departments of Medicine (BMIR) and Genetics, Stanford University, Stanford, California, USA.
¹⁵ School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.

PMID: 39135485
PMCID: PMC11452279 (available on 2025-10-01)
DOI: 10.1002/cpt.3405

Abstract

The Pharmacogene Variation Consortium (PharmVar) serves as a global repository providing star (*) allele nomenclature for the polymorphic human CYP4F2 gene. CYP4F2 genetic variation impacts the metabolism of vitamin K, which is associated with warfarin dose requirements, and the metabolism of drugs, such as imatinib or fingolimod, and certain endogenous compounds including vitamin E and eicosanoids. This GeneFocus provides a comprehensive overview and summary of CYP4F2 genetic variation including the characterization of 14 novel star alleles, CYP4F2*4 through *17. A description of how haplotype information cataloged by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC) is also provided.

Publication types

Review

MeSH terms

Alleles
Cytochrome P450 Family 4* / genetics
Genetic Variation / genetics
Haplotypes
Humans
Pharmacogenetics / methods
Pharmacogenomic Variants

Substances

CYP4F2 protein, human
Cytochrome P450 Family 4

Abstract

Publication types

MeSH terms

Substances

Grants and funding