PharmVar Catalogues CYP2C9 Star Alleles Critical for Warfarin and NSAID Safety
This GeneFocus provides a comprehensive overview of CYP2C9 genetic variation as catalogued by PharmVar, covering its impact on warfarin, NSAIDs, phenytoin, antidiabetic agents, and siponimod metabolism. The standardised nomenclature enables consistent cross-laboratory reporting and underpins multiple CPIC guidelines. CYP2C9 is one of the most clinically impactful pharmacogenes, making accurate genotyping and reporting a core competency for pharmacogenomic laboratories.
The original study
PharmVar GeneFocus: CYP2C9.
- Authors
- Sangkuhl K, Claudio-Campos K, Cavallari LH, Agundez JAG, Whirl-Carrillo M, Duconge J, et al.
- Journal
- Clinical pharmacology and therapeutics
- Type
- Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review
- PMID
- 34109627
Original abstract
The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C9 gene. Genetic variation within the CYP2C9 gene locus impacts the metabolism or bioactivation of many clinically important drugs, including nonsteroidal anti-inflammatory drugs, phenytoin, antidiabetic agents, and angiotensin receptor blockers. Variable CYP2C9 activity is of particular importance regarding efficacy and safety of warfarin and siponimod as indicated in their package inserts. This GeneFocus provides a comprehensive overview and summary of CYP2C9 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium.