PharmVar 基因焦点：CYP2A6。
PharmVar GeneFocus: CYP2A6.
机构信息
Department of Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada.
Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
出版信息
Clin Pharmacol Ther. 2024 Oct;116(4):948-962. doi: 10.1002/cpt.3387. Epub 2024 Jul 25.
Abstract
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the human CYP2A gene locus containing the highly polymorphic CYP2A6 gene. CYP2A6 plays a role in the metabolism of nicotine and various drugs. Thus, genetic variation can substantially contribute to the function of this enzyme and associated efficacy and safety. This GeneFocus provides an overview of the clinical significance of CYP2A6, including its genetic variation and function. We also highlight and discuss caveats in the identification and characterization of allelic variation of this complex pharmacogene, a prerequisite for accurate genotype determination and prediction of phenotype status.
摘要
药物基因变异联合会（PharmVar）为包含高度多态性 CYP2A6 基因的人类 CYP2A 基因座提供命名法。CYP2A6 在尼古丁和各种药物的代谢中起作用。因此，遗传变异可以极大地影响该酶的功能以及相关的疗效和安全性。本基因焦点提供了 CYP2A6 的临床意义概述，包括其遗传变异和功能。我们还强调并讨论了鉴定和描述这个复杂药物基因等位基因变异时的注意事项，这是准确确定基因型和预测表型状态的前提。
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