PharmVar GeneFocus: CYP2C9

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 NSAIDs, phenytoin, anti-diabetic agents and angiotensin receptor blocker. 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 (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).

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Sangkuhl, K., Claudio-Campos, K., Cavallari, L. H., Agundez, J. a. G., Whirl-Carrillo, M., Duconge, J., Tredici, A. D., Wadelius, M., Botton, M. R., Woodahl, E. L., Scott, S. A., Klein, T. E., Pratt, V. M., Daly, A. K., & Gaedigk, A. (2021). PharmVar GeneFocus: CYP2C9. Clinical Pharmacology & Therapeutics, 110(3), 662–676. https://doi.org/10.1002/cpt.2333
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0009-9236, 1532-6535
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Clinical Pharmacology & Therapeutics
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