PharmVar GeneFocus: CYP2A6 Nomenclature for Nicotine Metabolism and Drug Interactions
This review catalogues PharmVar's star allele nomenclature for CYP2A6, which plays a key role in nicotine metabolism and the clearance of several drugs. The complex gene locus with deletions and gene conversions poses significant challenges for accurate genotyping. The standardised nomenclature supports emerging clinical applications in smoking cessation pharmacotherapy and precision dosing.
The original study
PharmVar GeneFocus: CYP2A6.
- Authors
- Langlois AWR, Chenoweth MJ, Twesigomwe D, Scantamburlo G, Whirl-Carrillo M, Sangkuhl K, et al.
- Journal
- Clinical pharmacology and therapeutics
- Type
- Journal Article, Review
- PMID
- 39051767
Original abstract
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the human CYP2A gene locus containing the highly polymorphic CYP2A6 gene. CYP2A6 plays a role in the metabolism of nicotine and various drugs. Thus, genetic variation can substantially contribute to the function of this enzyme and associated efficacy and safety. This GeneFocus provides an overview of the clinical significance of CYP2A6, including its genetic variation and function. We also highlight and discuss caveats in the identification and characterization of allelic variation of this complex pharmacogene, a prerequisite for accurate genotype determination and prediction of phenotype status.