PharmVar 基因焦点：CYP2D6。
PharmVar GeneFocus: CYP2D6.
机构信息
PharmGenetix GmbH, Niederalm, Austria.
Section of Genomic Pediatrics, Department of Pediatrics, Children's Research Institute, The Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
出版信息
Clin Pharmacol Ther. 2020 Jan;107(1):154-170. doi: 10.1002/cpt.1643. Epub 2019 Dec 9.
Abstract
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the metabolism of numerous drugs and, thus, can impact drug efficacy and safety. This GeneFocus provides a comprehensive overview and summary of CYP2D6 genetic variation and describes how the information provided by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).
摘要
药物基因变异联合会（PharmVar）为高度多态性的人类 CYP2D6 基因座提供命名法。CYP2D6 基因变异会影响许多药物的代谢，因此会影响药物的疗效和安全性。本基因焦点提供了 CYP2D6 基因变异的全面概述和总结，并描述了 PharmVar 提供的信息如何被 Pharmacogenomics Knowledgebase（PharmGKB）和 Clinical Pharmacogenetics Implementation Consortium（CPIC）利用。
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