PharmVar GeneFocus: CYP4F2.

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

Journal: Clinical pharmacology and therapeutics 2024;116(4):963-975

PMID: 39135485

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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.

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

DOI: 10.1002/cpt.3405

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MeSH Terms: Humans, Cytochrome P450 Family 4, Pharmacogenetics, Haplotypes, Alleles, Genetic Variation, Pharmacogenomic Variants