药物代谢基因变异数据库重点关注 CYP2C19 基因。
PharmVar GeneFocus: CYP2C19.
机构信息
Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
出版信息
Clin Pharmacol Ther. 2021 Feb;109(2):352-366. doi: 10.1002/cpt.1973. Epub 2020 Jul 22.
Abstract
The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C19 gene. CYP2C19 genetic variation impacts the metabolism of many drugs and has been associated with both efficacy and safety issues for several commonly prescribed medications. This GeneFocus provides a comprehensive overview and summary of CYP2C19 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium (CPIC).
摘要
药物基因组变异联合会 (PharmVar) 为多态性人类 CYP2C19 基因的星号(*)等位基因命名法编目。CYP2C19 遗传变异会影响许多药物的代谢，并且与几种常用处方药的疗效和安全性问题都有关联。本基因焦点提供了 CYP2C19 的全面概述和总结，并描述了 PharmVar 编目单倍型信息如何被药物基因组学知识库和临床药物基因组学实施联盟 (CPIC) 使用。
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