2. Academic Validation
  3. PharmVar GeneFocus: CYP2C9

PharmVar GeneFocus: CYP2C9

  • Clin Pharmacol Ther. 2021 Sep;110(3):662-676. doi: 10.1002/cpt.2333.
Katrin Sangkuhl 1,  Karla Claudio-Campos 2,  Larisa H Cavallari 3,  Jose A G Agundez 4,  Michelle Whirl-Carrillo 1,  Jorge Duconge 5,  Andria L Del Tredici 6,  Mia Wadelius 7,  Mariana Rodrigues Botton 8,  Erica L Woodahl 9,  Stuart A Scott 10 11,  Teri E Klein 1,  Victoria M Pratt 12,  Ann K Daly 13,  Andrea Gaedigk 14 15
Affiliations

Affiliations

  • 1 Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, California, USA.
  • 2 Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, Florida, USA.
  • 3 Department of Pharmacotherapy and Translational Research, Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, Florida, USA.
  • 4 University Institute of Molecular Pathology Biomarkers, University of Extremadura, Asthma, Adverse Drug Reactions and Allergy (ARADyAL) Institute de Salud Carlos III, Cáceres, Spain.
  • 5 School of Pharmacy, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico, USA.
  • 6 Acadia Pharmaceuticals Inc., San Diego, California, USA.
  • 7 Department of Medical Sciences, Clinical Pharmacology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • 8 Cells, Tissues and Genes Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • 9 Department of Biomedical and Pharmaceutical Sciences, University of Montana, Missoula, Montana, USA.
  • 10 Department of Pathology, Stanford University, Stanford, California, USA.
  • 11 Stanford Health Care Clinical Genomics Laboratory, Palo Alto, California, USA.
  • 12 Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • 13 Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • 14 Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri, USA.
  • 15 School of Medicine, University of Missouri - Kansas City, Kansas City, Missouri, USA.
PMID: 34109627 DOI: 10.1002/cpt.2333
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.

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