PharmVar 基因焦点：CYP2C9。
PharmVar GeneFocus: CYP2C9.
机构信息
Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, California, USA.
Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, Florida, USA.
出版信息
Clin Pharmacol Ther. 2021 Sep;110(3):662-676. doi: 10.1002/cpt.2333. Epub 2021 Jul 12.
Abstract
The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C9 gene. Genetic variation within the CYP2C9 gene locus impacts the metabolism or bioactivation of many clinically important drugs, including nonsteroidal anti-inflammatory drugs, phenytoin, antidiabetic agents, and angiotensin receptor blockers. Variable CYP2C9 activity is of particular importance regarding efficacy and safety of warfarin and siponimod as indicated in their package inserts. This GeneFocus provides a comprehensive overview and summary of CYP2C9 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium.
摘要
药物基因组变异联合会（PharmVar）对多态性人类 CYP2C9 基因的星号（*）等位基因命名法进行编目。CYP2C9 基因座内的遗传变异会影响许多临床重要药物的代谢或生物活化，包括非甾体抗炎药、苯妥英、抗糖尿病药和血管紧张素受体阻滞剂。在其包装插页中指出，CYP2C9 活性的可变性对于华法林和西尼莫德的疗效和安全性尤为重要。本 GeneFocus 全面概述了 CYP2C9，并描述了 PharmVar 编目记录的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所利用。
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本文引用的文献
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2
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project.
J Mol Diagn. 2021 Aug;23(8):952-958. doi: 10.1016/j.jmoldx.2021.04.012. Epub 2021 May 19.
3
Variations and Their Pharmacogenetic Implications Among Diverse South Asian Populations.
Pharmgenomics Pers Med. 2021 Jan 27;14:135-147. doi: 10.2147/PGPM.S272015. eCollection 2021.
4
Modulation of CYP2C9 activity and hydrogen peroxide production by cytochrome b.
Sci Rep. 2020 Sep 23;10(1):15571. doi: 10.1038/s41598-020-72284-0.
5
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update.
Clin Pharmacol Ther. 2021 Feb;109(2):302-309. doi: 10.1002/cpt.2008. Epub 2020 Sep 6.
6
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7
An identification and functional evaluation of a novel CYP2C9 variant CYP2C9*62.
Chem Biol Interact. 2020 Aug 25;327:109168. doi: 10.1016/j.cbi.2020.109168. Epub 2020 Jun 9.
8
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9
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10
PharmVar and the Landscape of Pharmacogenetic Resources.
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