PharmVar 基因聚焦：CYP2A6。

IF 6.3 2区医学 Q1 PHARMACOLOGY & PHARMACY

Clinical Pharmacology & Therapeutics Pub Date : 2024-07-25 DOI:10.1002/cpt.3387

Alec W.R. Langlois, Meghan J. Chenoweth, David Twesigomwe, Giada Scantamburlo, Michelle Whirl-Carrillo, Katrin Sangkuhl, Teri E. Klein, Charity Nofziger, Rachel F. Tyndale, Andrea Gaedigk

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引用次数: 0

摘要

药物基因变异联盟（PharmVar）为包含高度多态性 CYP2A6 基因的人类 CYP2A 基因座提供了命名法。CYP2A6 在尼古丁和各种药物的代谢中发挥作用。因此，基因变异会对这种酶的功能以及相关的疗效和安全性产生重大影响。本基因聚焦概述了 CYP2A6 的临床意义，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一复杂药理基因等位基因变异的注意事项，这是准确确定基因型和预测表型状态的先决条件。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

PharmVar GeneFocus: CYP2A6

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PharmVar GeneFocus: CYP2A6

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.

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来源期刊

Clinical Pharmacology & Therapeutics 医学-药学

CiteScore

12.70

自引率

7.50%

发文量

290

审稿时长

2 months

期刊介绍： Clinical Pharmacology & Therapeutics (CPT) is the authoritative cross-disciplinary journal in experimental and clinical medicine devoted to publishing advances in the nature, action, efficacy, and evaluation of therapeutics. CPT welcomes original Articles in the emerging areas of translational, predictive and personalized medicine; new therapeutic modalities including gene and cell therapies; pharmacogenomics, proteomics and metabolomics; bioinformation and applied systems biology complementing areas of pharmacokinetics and pharmacodynamics, human investigation and clinical trials, pharmacovigilence, pharmacoepidemiology, pharmacometrics, and population pharmacology.