Literature DB >> 34109627

PharmVar GeneFocus: CYP2C9.

Katrin Sangkuhl1, Karla Claudio-Campos2, Larisa H Cavallari3, Jose A G Agundez4, Michelle Whirl-Carrillo1, Jorge Duconge5, Andria L Del Tredici6, Mia Wadelius7, Mariana Rodrigues Botton8, Erica L Woodahl9, Stuart A Scott10,11, Teri E Klein1, Victoria M Pratt12, Ann K Daly13, Andrea Gaedigk14,15.   

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.
© 2021 The Authors. Clinical Pharmacology & Therapeutics © 2021 American Society for Clinical Pharmacology and Therapeutics.

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Year:  2021        PMID: 34109627      PMCID: PMC8607432          DOI: 10.1002/cpt.2333

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN: 0009-9236            Impact factor:   6.903


  78 in total

1.  A comparison of bayesian methods for haplotype reconstruction from population genotype data.

Authors:  Matthew Stephens; Peter Donnelly
Journal:  Am J Hum Genet       Date:  2003-10-20       Impact factor: 11.025

2.  Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamily.

Authors:  M Romkes; M B Faletto; J A Blaisdell; J L Raucy; J A Goldstein
Journal:  Biochemistry       Date:  1991-04-02       Impact factor: 3.162

3.  Differences in CYP2C9 Genotype and Enzyme Activity Between Swedes and Koreans of Relevance for Personalized Medicine: Role of Ethnicity, Genotype, Smoking, Age, and Sex.

Authors:  Fazleen H M Hatta; Mia Lundblad; Margareta Ramsjo; Ju-Hee Kang; Hyung-Keun Roh; Leif Bertilsson; Erik Eliasson; Eleni Aklillu
Journal:  OMICS       Date:  2015-05-15

4.  The role of the CYP2C9-Leu359 allelic variant in the tolbutamide polymorphism.

Authors:  T H Sullivan-Klose; B I Ghanayem; D A Bell; Z Y Zhang; L S Kaminsky; G M Shenfield; J O Miners; D J Birkett; J A Goldstein
Journal:  Pharmacogenetics       Date:  1996-08

5.  Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.

Authors:  Thomas W Prior; Pinar Bayrak-Toydemir; Ty C Lynnes; Rong Mao; James D Metcalf; Kasinathan Muralidharan; Aiko Iwata-Otsubo; Ha T Pham; Victoria M Pratt; Shumaila Qureshi; Deborah Requesens; Junqing Shen; Francesco Vetrini; Lisa Kalman
Journal:  J Mol Diagn       Date:  2020-11-14       Impact factor: 5.568

6.  CYP2C9 promoter region single-nucleotide polymorphisms linked to the R150H polymorphism are functional suggesting their role in CYP2C9*8-mediated effects.

Authors:  Larisa H Cavallari; David Vaynshteyn; Kimberly M Freeman; Danxin Wang; Minoli A Perera; Harumi Takahashi; Katrzyna Drozda; Shitalben R Patel; Hyunyoung Jeong
Journal:  Pharmacogenet Genomics       Date:  2013-04       Impact factor: 2.089

7.  Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.

Authors:  Katherine N Theken; Craig R Lee; Li Gong; Kelly E Caudle; Christine M Formea; Andrea Gaedigk; Teri E Klein; José A G Agúndez; Tilo Grosser
Journal:  Clin Pharmacol Ther       Date:  2020-04-28       Impact factor: 6.875

8.  PharmVar and the Landscape of Pharmacogenetic Resources.

Authors:  Andrea Gaedigk; Michelle Whirl-Carrillo; Victoria M Pratt; Neil A Miller; Teri E Klein
Journal:  Clin Pharmacol Ther       Date:  2019-11-23       Impact factor: 6.875

Review 9.  Cytochrome P4502C9: an enzyme of major importance in human drug metabolism.

Authors:  J O Miners; D J Birkett
Journal:  Br J Clin Pharmacol       Date:  1998-06       Impact factor: 4.335

10.  Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.

Authors:  Andrea Gaedigk; Scott T Casey; Michelle Whirl-Carrillo; Neil A Miller; Teri E Klein
Journal:  Clin Pharmacol Ther       Date:  2021-06-29       Impact factor: 6.903

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  3 in total

Review 1.  PharmVar GeneFocus: CYP3A5.

Authors:  Cristina Rodriguez-Antona; Jessica L Savieo; Volker M Lauschke; Katrin Sangkuhl; Britt I Drögemöller; Danxin Wang; Ron H N van Schaik; Andrei A Gilep; Arul P Peter; Erin C Boone; Bronwyn E Ramey; Teri E Klein; Michelle Whirl-Carrillo; Victoria M Pratt; Andrea Gaedigk
Journal:  Clin Pharmacol Ther       Date:  2022-02-24       Impact factor: 6.903

2.  CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.

Authors:  Andrea Gaedigk; Erin C Boone; Steven E Scherer; Seung-Been Lee; Ibrahim Numanagić; Cenk Sahinalp; Joshua D Smith; Sean McGee; Aparna Radhakrishnan; Xiang Qin; Wendy Y Wang; Emily G Farrow; Nina Gonzaludo; Aaron L Halpern; Deborah A Nickerson; Neil A Miller; Victoria M Pratt; Lisa V Kalman
Journal:  J Mol Diagn       Date:  2022-02-05       Impact factor: 5.341

3.  The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.

Authors:  Rhonda M Cooper-DeHoff; Mikko Niemi; Laura B Ramsey; Jasmine A Luzum; E Katriina Tarkiainen; Robert J Straka; Li Gong; Sony Tuteja; Russell A Wilke; Mia Wadelius; Eric A Larson; Dan M Roden; Teri E Klein; Sook Wah Yee; Ronald M Krauss; Richard M Turner; Latha Palaniappan; Andrea Gaedigk; Kathleen M Giacomini; Kelly E Caudle; Deepak Voora
Journal:  Clin Pharmacol Ther       Date:  2022-03-11       Impact factor: 6.903

  3 in total

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