PharmVar GeneFocus: CYP2C9

Katrin Sangkuhl; Karla Claudio-Campos; Larisa H. Cavallari; Jose A.G. Agundez; Michelle Whirl-Carrillo; Jorge Duconge; Andria L. Del Tredici; Mia Wadelius; Mariana Rodrigues Botton; Erica L. Woodahl; Stuart A. Scott; Teri E. Klein; Victoria M. Pratt; Ann K. Daly; Andrea Gaedigk

doi:10.1002/cpt.2333

PharmVar GeneFocus: CYP2C9

Katrin Sangkuhl
, Karla Claudio-Campos
, Larisa H. Cavallari
, Jose A.G. Agundez
, Michelle Whirl-Carrillo
, Jorge Duconge
, Andria L. Del Tredici
, Mia Wadelius
, Mariana Rodrigues Botton
, Erica L. Woodahl
, Stuart A. Scott
, Teri E. Klein
, Victoria M. Pratt
, Ann K. Daly
, Andrea Gaedigk

Research output: Contribution to journal › Review article › peer-review

61 Scopus citations

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.

Original language	English
Pages (from-to)	662-676
Number of pages	15
Journal	Clinical Pharmacology and Therapeutics
Volume	110
Issue number	3
DOIs	https://doi.org/10.1002/cpt.2333
State	Published - Sep 2021

Funding

This work was funded by the National Institutes of Health for the Pharmacogene Variation Consortium (R24 GM123930; PI, A.G.) and PharmGKB (U24 HG010615; PI, T.E.K.). We also acknowledge support: J.A.G.A., Fondo de Investigación Sanitaria, Instituto de Salud Carlos III, Madrid, Spain (PI18/00540, and RD16/0006/0004); M.W., Swedish Research Council (Medicine 2018‐03307) and Swedish Heart‐Lung Foundation (20170711 and 20200777); L.H.C. was supported in part by NIH/NCATS (UL1 TR001427); K.C.‐C., NHGRI (T32 HG008958); J.D., NIH/NIMHD (U54 MD007600) and the Center for Collaborative Research in Health Disparities (RCMI‐CCRHD).

Funders	Funder number
R24 GM123930, U24 HG010615
T32 HG008958
P01GM116691
UL1 TR001427
U54 MD007600
20200777, 20170711
2018‐03307
Instituto de Salud Carlos III	RD16/0006/0004, PI18/00540

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10.1002/cpt.2333

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Sangkuhl, K., Claudio-Campos, K., Cavallari, L. H., Agundez, J. A. G., Whirl-Carrillo, M., Duconge, J., Del Tredici, A. L., Wadelius, M., Rodrigues Botton, M., Woodahl, E. L., Scott, S. A., Klein, T. E., Pratt, V. M., Daly, A. K., & Gaedigk, A. (2021). PharmVar GeneFocus: CYP2C9. Clinical Pharmacology and Therapeutics, 110(3), 662-676. https://doi.org/10.1002/cpt.2333

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title = "PharmVar GeneFocus: CYP2C9",

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.",

author = "Katrin Sangkuhl and Karla Claudio-Campos and Cavallari, \{Larisa H.\} and Agundez, \{Jose A.G.\} and Michelle Whirl-Carrillo and Jorge Duconge and \{Del Tredici\}, \{Andria L.\} and Mia Wadelius and \{Rodrigues Botton\}, Mariana and Woodahl, \{Erica L.\} and Scott, \{Stuart A.\} and Klein, \{Teri E.\} and Pratt, \{Victoria M.\} and Daly, \{Ann K.\} and Andrea Gaedigk",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors. Clinical Pharmacology \& Therapeutics {\textcopyright} 2021 American Society for Clinical Pharmacology and Therapeutics",

year = "2021",

month = sep,

doi = "10.1002/cpt.2333",

language = "English",

volume = "110",

pages = "662--676",

journal = "Clinical Pharmacology and Therapeutics",

issn = "0009-9236",

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AU - Sangkuhl, Katrin

AU - Claudio-Campos, Karla

AU - Cavallari, Larisa H.

AU - Agundez, Jose A.G.

AU - Whirl-Carrillo, Michelle

AU - Duconge, Jorge

AU - Del Tredici, Andria L.

AU - Wadelius, Mia

AU - Rodrigues Botton, Mariana

AU - Woodahl, Erica L.

AU - Scott, Stuart A.

AU - Klein, Teri E.

AU - Pratt, Victoria M.

AU - Daly, Ann K.

AU - Gaedigk, Andrea

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AB - 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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M3 - Review article

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SP - 662

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JO - Clinical Pharmacology and Therapeutics

JF - Clinical Pharmacology and Therapeutics

IS - 3

ER -

PharmVar GeneFocus: CYP2C9

Abstract

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