PharmVar GeneFocus: CYP2D6

Charity Nofziger; Amy J Turner; Katrin Sangkuhl; Michelle Whirl-Carrillo; José A G Agúndez; John L Black; Henry M Dunnenberger; Gualberto Ruano; Martin A Kennedy; Michael S Phillips; Houda Hachad; Teri E Klein; Andrea Gaedigk

doi:10.1002/cpt.1643

PharmVar GeneFocus: CYP2D6

Clin Pharmacol Ther. 2020 Jan;107(1):154-170. doi: 10.1002/cpt.1643. Epub 2019 Dec 9.

Authors

Charity Nofziger¹, Amy J Turner^{2

3}, Katrin Sangkuhl⁴, Michelle Whirl-Carrillo⁴, José A G Agúndez^{5

6}, John L Black⁷, Henry M Dunnenberger⁸, Gualberto Ruano⁹, Martin A Kennedy¹⁰, Michael S Phillips¹¹, Houda Hachad¹², Teri E Klein⁴, Andrea Gaedigk^{13

14}

Affiliations

¹ PharmGenetix GmbH, Niederalm, Austria.
² Section of Genomic Pediatrics, Department of Pediatrics, Children's Research Institute, The Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
³ RPRD Diagnostics LLC, Wauwatosa, Wisconsin, USA.
⁴ Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
⁵ University Institute of Molecular Pathology Biomarkers, UEx, Cáceres, Spain.
⁶ ARADyAL Instituto de Salud Carlos III, Madrid, Spain.
⁷ Division of Laboratory Genetics and Genomics, Personalized Genomics Laboratory, Mayo Clinic Laboratories, Mayo Clinic, Rochester, Minnesota, USA.
⁸ Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanton, Illinois, USA.
⁹ Institute of Living at Hartford Hospital, Genomas Laboratory of Personalized Health, Hartford, Connecticut, USA.
¹⁰ Department of Pathology and Biomedical Science, University Otago, Christchurch, New Zealand.
¹¹ Sequence Bioinformatics Inc, St. John's, Newfoundland, Canada.
¹² Translational Software, Bellevue, Washington, USA.
¹³ Division of Clinical Pharmacology, Toxicology, & Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri, USA.
¹⁴ School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.

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).

Publication types

Research Support, N.I.H., Extramural
Review

MeSH terms

Cytochrome P-450 CYP2D6 / genetics*
Databases, Genetic
Genetic Variation
Humans
Knowledge Bases*
Pharmaceutical Preparations / metabolism
Pharmacogenetics*
Polymorphism, Genetic

Substances

Pharmaceutical Preparations
Cytochrome P-450 CYP2D6

Abstract

Publication types

MeSH terms

Substances

Grants and funding