PharmVar GeneFocus: CYP2D6.

Journal: Clinical pharmacology and therapeutics
Published Date: Jan 1, 2020

Abstract

The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the metabolism of numerous drugs and, thus, can impact drug efficacy and safety. This GeneFocus provides a comprehensive overview and summary of CYP2D6 genetic variation and describes how the information provided by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Authors

  • Charity Nofziger
    PharmGenetix GmbH, Niederalm, Austria.
  • Amy J Turner
    Section of Genomic Pediatrics, Department of Pediatrics, Children's Research Institute, The Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Katrin Sangkuhl
    Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
  • Michelle Whirl-Carrillo
    Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
  • José A G Agúndez
    University Institute of Molecular Pathology Biomarkers, UEx, Cáceres, Spain.
  • John L Black
    Division of Laboratory Genetics and Genomics, Personalized Genomics Laboratory, Mayo Clinic Laboratories, Mayo Clinic, Rochester, Minnesota, USA.
  • Henry M Dunnenberger
    Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanton, Illinois, USA.
  • Gualberto Ruano
    Institute of Living at Hartford Hospital, Genomas Laboratory of Personalized Health, Hartford, Connecticut, USA.
  • Martin A Kennedy
    Department of Pathology and Biomedical Science, University Otago, Christchurch, New Zealand.
  • Michael S Phillips
    Sequence Bioinformatics Inc, St. John's, Newfoundland, Canada.
  • Houda Hachad
    Translational Software, Bellevue, Washington, USA.
  • Teri E Klein
    Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
  • Andrea Gaedigk
    Division of Clinical Pharmacology, Toxicology, & Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri, USA.

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