Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Clin Pharmacol Ther. 2022 Dec;112(6):1159-1171. doi: 10.1002/cpt.2563. Epub 2022 Mar 29.
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).
Pharmacogene 变异联合会(PharmVar)为多态性人类 CYP3A5 基因的星号(*)等位基因命名法编制目录。CYP3A5 基因座内的遗传变异会影响多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、环孢素和苯二氮䓬类药物咪达唑仑。CYP3A5 活性的可变性对于他克莫司代谢具有重要的临床意义。本 GeneFocus 提供了 CYP3A5 基因概述,重点介绍了标准化命名法的各个方面。此外,本综述还总结了最近的变化和更新,包括几个等位基因变体的退役情况,并概述了 PharmVar CYP3A5 星号等位基因命名法如何被 Pharmacogenomics Knowledgebase(PharmGKB)和 Clinical Pharmacogenetics Implementation Consortium(CPIC)使用。