Molecular Dx Significance 5/10

PharmVar Defines 14 Novel CYP4F2 Star Alleles Affecting Warfarin and Vitamin K Metabolism

This PharmVar GeneFocus catalogues the star allele nomenclature for CYP4F2, including 14 newly characterised alleles (*4 through *17). CYP4F2 genetic variation affects vitamin K metabolism and consequently warfarin dose requirements, as well as the metabolism of imatinib and fingolimod. The standardised nomenclature enables consistent reporting across clinical laboratories and supports integration with CPIC warfarin dosing guidelines.

The original study

PharmVar GeneFocus: CYP4F2.

Authors
Zubiaur P, Rodríguez-Antona C, Boone EC, Daly AK, Tsermpini EE, Khasawneh LQ, et al.
Journal
Clinical pharmacology and therapeutics
Type
Journal Article, Review
PMID
39135485
Read the original study →

Original 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.