PharmVar GeneFocus: CYP3A5.
PharmVar GeneFocus: CYP3A5.
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DOI：
10.1002/cpt.2563
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发表时间：
2022-12
影响因子：
6.7
通讯作者：
中科院分区：
文献类型：
--
作者：
Pharmacogene Variation Consortium（PharmVar）对多态性人CYP 3A5基因的星星（*）等位基因命名法进行了编目。CYP 3A 5基因座内的遗传变异影响几种临床重要药物的代谢，包括免疫抑制剂他克莫司、西罗莫司、环孢菌素和苯二氮卓类咪达唑仑。可变的CYP3A5活性对于他克莫司代谢具有临床重要性。该GeneFocus提供了一个CYP3A5基因总结，重点是关于标准化命名的方面。此外，本综述还总结了最近的变化和更新，包括退休的几个等位基因变体，并提供了一个概述如何PharmVar CYP3A5星星等位基因命名法是利用药物基因组学知识库（PharmGKB）和临床药物遗传学实施联盟（CPIC）。
The Pharmacogene Variation Consortium (PharmVar) catalogs star (*) allele nomenclature for the polymorphic human CYP3A5 gene. Genetic variation within the CYP3A5 gene locus impacts the metabolism of several clinically important drugs, including the immunosuppressants tacrolimus, sirolimus, cyclosporine, and the benzodiazepine midazolam. Variable CYP3A5 activity is of clinical importance regarding tacrolimus metabolism. This GeneFocus provides a CYP3A5 gene summary with a focus on aspects regarding standardized nomenclature. In addition, this review also summarizes recent changes and updates including the retirement of several allelic variants and provides an overview of how PharmVar CYP3A5 star allele nomenclature is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).