PharmVar GeneFocus: CYP2C19 Nomenclature Underpinning Clopidogrel and PPI Guidelines
This review provides a comprehensive overview of CYP2C19 genetic variation catalogued by PharmVar, the polymorphic enzyme central to clopidogrel activation and PPI metabolism. Standardised star allele definitions are essential for consistent laboratory reporting and clinical implementation of multiple CPIC guidelines. CYP2C19 is one of the most frequently tested pharmacogenes, making this nomenclature reference indispensable for any laboratory offering pharmacogenomic services.
The original study
PharmVar GeneFocus: CYP2C19.
- Authors
- Botton MR, Whirl-Carrillo M, Del Tredici AL, Sangkuhl K, Cavallari LH, Agúndez JAG, et al.
- Journal
- Clinical pharmacology and therapeutics
- Type
- Journal Article, Research Support, N.I.H., Extramural, Review
- PMID
- 32602114
Original abstract
The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C19 gene. CYP2C19 genetic variation impacts the metabolism of many drugs and has been associated with both efficacy and safety issues for several commonly prescribed medications. This GeneFocus provides a comprehensive overview and summary of CYP2C19 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium (CPIC).