PharmVar GeneFocus: <i>CYP2C9</i>
Katrin Sangkuhl, Karla Claudio‐Campos, Larisa H. Cavallari, José A. G. Agúndez, Michelle Whirl‐Carrillo, Jorgé Duconge, Andria L. Del Tredici, Mia Wadelius, Mariana Rodrigues Botton, Erica L. Woodahl, Stuart A. Scott, Teri E. Klein, Victoria M. Pratt, Ann K. Daly, Andrea Gaedigk
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.