PharmVar GeneFocus: <i>CYP2C9</i>

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  • Katrin Sangkuhl
    Department of Biomedical Data Science School of Medicine Stanford University Stanford California USA
  • Karla Claudio‐Campos
    Department of Pharmacotherapy and Translational Research College of Pharmacy University of Florida Gainesville Florida USA
  • Larisa H. Cavallari
    Department of Pharmacotherapy and Translational Research Center for Pharmacogenomics and Precision Medicine University of Florida Gainesville Florida USA
  • Jose A.G. Agundez
    University Institute of Molecular Pathology Biomarkers University of Extremadura Asthma, Adverse Drug Reactions and Allergy (ARADyAL) Institute de Salud Carlos III Cáceres Spain
  • Michelle Whirl‐Carrillo
    Department of Biomedical Data Science School of Medicine Stanford University Stanford California USA
  • Jorge Duconge
    School of Pharmacy University of Puerto Rico Medical Sciences Campus San Juan Puerto Rico USA
  • Andria L. Del Tredici
    Acadia Pharmaceuticals Inc. San Diego California USA
  • Mia Wadelius
    Department of Medical Sciences Clinical Pharmacology and Science for Life Laboratory Uppsala University Uppsala Sweden
  • Mariana Rodrigues Botton
    Cells, Tissues and Genes Laboratory Hospital de Clínicas de Porto Alegre Porto Alegre Brazil
  • Erica L. Woodahl
    Department of Biomedical and Pharmaceutical Sciences University of Montana Missoula Montana USA
  • Stuart A. Scott
    Department of Pathology Stanford University Stanford California USA
  • Teri E. Klein
    Department of Biomedical Data Science School of Medicine Stanford University Stanford California USA
  • Victoria M. Pratt
    Indiana University School of Medicine Indianapolis Indiana USA
  • Ann K. Daly
    Translational and Clinical Research Institute Newcastle University Newcastle upon Tyne UK
  • Andrea Gaedigk
    Division of Clinical Pharmacology Toxicology & Therapeutic Innovation Children’s Mercy Kansas City Kansas City Missouri USA

抄録

<jats:p>The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human <jats:italic>CYP2C9</jats:italic> gene. Genetic variation within the <jats:italic>CYP2C9</jats:italic> 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 <jats:italic>CYP2C9</jats:italic> and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium.</jats:p>

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