Pablo Zubiaur, Cristina Rodríguez-Antona, Erin C. Boone, Ann K. Daly, Evangelia Eirini Tsermpini, Lubna Q. Khasawneh, Katrin Sangkuhl, Jorge Duconge, Mariana R. Botton, Jessica Savieo, Charity Nofziger, Michelle Whirl-Carrillo, Teri E. Klein, Andrea Gaedigk
{"title":"PharmVar GeneFocus: CYP4F2","authors":"Pablo Zubiaur, Cristina Rodríguez-Antona, Erin C. Boone, Ann K. Daly, Evangelia Eirini Tsermpini, Lubna Q. Khasawneh, Katrin Sangkuhl, Jorge Duconge, Mariana R. Botton, Jessica Savieo, Charity Nofziger, Michelle Whirl-Carrillo, Teri E. Klein, Andrea Gaedigk","doi":"10.1002/cpt.3405","DOIUrl":null,"url":null,"abstract":"<p>The Pharmacogene Variation Consortium (PharmVar) serves as a global repository providing star (*) allele nomenclature for the polymorphic human <i>CYP4F2</i> gene. <i>CYP4F2</i> genetic variation impacts the metabolism of vitamin K, which is associated with warfarin dose requirements, and the metabolism of drugs, such as imatinib or fingolimod, and certain endogenous compounds including vitamin E and eicosanoids. This GeneFocus provides a comprehensive overview and summary of <i>CYP4F2</i> genetic variation including the characterization of 14 novel star alleles, <i>CYP4F2*4</i> through <i>*17</i>. A description of how haplotype information cataloged by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC) is also provided.</p>","PeriodicalId":153,"journal":{"name":"Clinical Pharmacology & Therapeutics","volume":null,"pages":null},"PeriodicalIF":6.3000,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cpt.3405","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pharmacology & Therapeutics","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cpt.3405","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
引用次数: 0
Abstract
The Pharmacogene Variation Consortium (PharmVar) serves as a global repository providing star (*) allele nomenclature for the polymorphic human CYP4F2 gene. CYP4F2 genetic variation impacts the metabolism of vitamin K, which is associated with warfarin dose requirements, and the metabolism of drugs, such as imatinib or fingolimod, and certain endogenous compounds including vitamin E and eicosanoids. This GeneFocus provides a comprehensive overview and summary of CYP4F2 genetic variation including the characterization of 14 novel star alleles, CYP4F2*4 through *17. A description of how haplotype information cataloged by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC) is also provided.
期刊介绍:
Clinical Pharmacology & Therapeutics (CPT) is the authoritative cross-disciplinary journal in experimental and clinical medicine devoted to publishing advances in the nature, action, efficacy, and evaluation of therapeutics. CPT welcomes original Articles in the emerging areas of translational, predictive and personalized medicine; new therapeutic modalities including gene and cell therapies; pharmacogenomics, proteomics and metabolomics; bioinformation and applied systems biology complementing areas of pharmacokinetics and pharmacodynamics, human investigation and clinical trials, pharmacovigilence, pharmacoepidemiology, pharmacometrics, and population pharmacology.