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
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引用次数: 0
摘要
药物基因变异联盟（PharmVar）是一个全球资料库，提供多态人类 CYP4F2 基因的星形（*）等位基因命名法。CYP4F2 基因变异会影响维生素 K 的代谢（这与华法林的剂量要求有关）以及药物（如伊马替尼或芬戈莫德）和某些内源性化合物（包括维生素 E 和二十酸）的代谢。本基因聚焦全面概述和总结了 CYP4F2 的遗传变异，包括 14 个新型星等位基因（CYP4F2*4 至 *17）的特征。此外，还介绍了药物基因组学知识库 (PharmGKB) 和临床药物基因组学实施联盟 (CPIC) 如何利用 PharmVar 编录的单倍型信息。
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.
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