PharmVar GeneFocus: CYP2C19

Mariana R Botton; Michelle Whirl-Carrillo; Andria L Del Tredici; Katrin Sangkuhl; Larisa H Cavallari; José A G Agúndez; Jorge Duconge; Ming Ta Michael Lee; Erica L Woodahl; Karla Claudio-Campos; Ann K Daly; Teri E Klein; Victoria M Pratt; Stuart A Scott; Andrea Gaedigk

doi:10.1002/cpt.1973

PharmVar GeneFocus: CYP2C19

Clin Pharmacol Ther. 2021 Feb;109(2):352-366. doi: 10.1002/cpt.1973. Epub 2020 Jul 22.

Authors

Mariana R Botton¹, Michelle Whirl-Carrillo², Andria L Del Tredici³, Katrin Sangkuhl², Larisa H Cavallari⁴, José A G Agúndez⁵, Jorge Duconge⁶, Ming Ta Michael Lee⁷, Erica L Woodahl⁸, Karla Claudio-Campos⁴, Ann K Daly⁹, Teri E Klein², Victoria M Pratt¹⁰, Stuart A Scott^{11

12}, Andrea Gaedigk¹³

Affiliations

¹ Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
² Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
³ Millennium Health LLC, San Diego, California, USA.
⁴ University of Florida, Gainsville, Florida, USA.
⁵ UNEx, ARADyAL, Instituto de Salud Carlos III, University Institute of Molecular Pathology Biomarkers, Cáceres, Spain.
⁶ School of Pharmacy, University of Puerto Rico, San Juan, Puerto Rico.
⁷ Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
⁸ Department of Biomedical and Pharmaceutical Sciences, University of Montana, Missoula, Montana, USA.
⁹ Newcastle University, Newcastle upon Tyne, UK.
¹⁰ Indiana University School of Medicine, Indianapolis, Indiana, USA.
¹¹ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
¹² Sema4, Stamford, Connecticut, USA.
¹³ Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy, Kansas City, Missouri, USA.

Abstract

The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C19 gene. CYP2C19 genetic variation impacts the metabolism of many drugs and has been associated with both efficacy and safety issues for several commonly prescribed medications. This GeneFocus provides a comprehensive overview and summary of CYP2C19 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Publication types

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

MeSH terms

Alleles
Cytochrome P-450 CYP2C19 / genetics*
Genetic Variation / genetics
Genotype
Haplotypes / genetics
Humans
Knowledge Bases
Pharmacogenetics / methods

Substances

CYP2C19 protein, human
Cytochrome P-450 CYP2C19

Abstract

Publication types

MeSH terms

Substances

Grants and funding