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本文引用的文献

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Warfarin genotyping reduces hospitalization rates results from the MM-WES (Medco-Mayo Warfarin Effectiveness study).华法林基因分型降低了住院率,这是 MM-WES(美科梅奥华法林有效性研究)的结果。
J Am Coll Cardiol. 2010 Jun 22;55(25):2804-12. doi: 10.1016/j.jacc.2010.03.009. Epub 2010 Apr 8.
2
Validation and comparison of pharmacogenetics-based warfarin dosing algorithms for application of pharmacogenetic testing.验证和比较基于药物遗传学的华法林剂量算法在药物遗传学检测中的应用。
J Mol Diagn. 2010 May;12(3):283-91. doi: 10.2353/jmoldx.2010.090110. Epub 2010 Mar 12.
3
Comparison of assay systems for warfarin-related CYP2C9 and VKORC1 genotyping.华法林相关 CYP2C9 和 VKORC1 基因分型检测系统的比较。
Clin Chim Acta. 2010 Jul 4;411(13-14):947-54. doi: 10.1016/j.cca.2010.03.005. Epub 2010 Mar 11.
4
Warfarin sensitivity genotyping: a review of the literature and summary of patient experience.华法林敏感性基因分型:文献回顾和患者经验总结。
Mayo Clin Proc. 2009 Dec;84(12):1079-94. doi: 10.4065/mcp.2009.0278.
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Evaluation of the Nanosphere Verigene System and the Verigene F5/F2/MTHFR Nucleic Acid Tests.纳米球Verigene系统及Verigene F5/F2/MTHFR核酸检测的评估
Exp Mol Pathol. 2009 Oct;87(2):105-8. doi: 10.1016/j.yexmp.2009.06.002. Epub 2009 Jun 30.
6
Validation of clinical testing for warfarin sensitivity: comparison of CYP2C9-VKORC1 genotyping assays and warfarin-dosing algorithms.华法林敏感性临床检测的验证:CYP2C9-VKORC1基因分型检测与华法林给药算法的比较
J Mol Diagn. 2009 May;11(3):216-25. doi: 10.2353/jmoldx.2009.080123. Epub 2009 Mar 26.
7
Regulatory polymorphism in vitamin K epoxide reductase complex subunit 1 (VKORC1) affects gene expression and warfarin dose requirement.维生素K环氧化物还原酶复合体亚单位1(VKORC1)中的调节性多态性影响基因表达和华法林剂量需求。
Blood. 2008 Aug 15;112(4):1013-21. doi: 10.1182/blood-2008-03-144899. Epub 2008 Jun 3.
8
Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin.对华法林进行CYP2C9和VKORC1等位基因的药物遗传学检测。
Genet Med. 2008 Feb;10(2):139-50. doi: 10.1097/GIM.0b013e318163c35f.
9
Association of warfarin dose with genes involved in its action and metabolism.华法林剂量与其作用和代谢相关基因的关联。
Hum Genet. 2007 Mar;121(1):23-34. doi: 10.1007/s00439-006-0260-8. Epub 2006 Oct 18.
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Clinical genotyping: the need for interrogation of single nucleotide polymorphisms and mutations in the clinical laboratory.临床基因分型:临床实验室对单核苷酸多态性和突变进行检测的必要性。
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使用三种不同平台对华法林进行基因分型。

Warfarin genotyping using three different platforms.

作者信息

Lefferts Joel A, Schwab Mary C, Dandamudi Uday B, Lee Hong-Kee, Lewis Lionel D, Tsongalis Gregory J

出版信息

Am J Transl Res. 2010 Jul 25;2(4):441-6.

PMID:20733952
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2923866/
Abstract

Genetic testing for common variants in the CYP2C9 and VKORC1 genes may provide useful clinical information to guide dosing patients receiving oral warfarin. Specifically, the CYP2C92, CYP2C93 and either the VKORC1-1639 G>A or VKORC1 1173C>T polymorphisms can be used to help predict an approximate warfarin maintenance dose needed for a particular patient. Although clinical uptake and use of this genotyping has been slow, an increasing body of literature provides evidence of the clinical utility of supplementing traditional warfarin dosing algorithms with a pharmacogenetic approach. The availability of multiple methods for clinical genotyping provides the opportunity for molecular diagnostic laboratories to introduce genotyping assays tailored to their specific needs based on variables such as testing volumes, staffing, available instrumentation and needed turnaround times. Three assays (Invader, Verigene and TaqMan) designed to detect three genetic variations associated with warfarin dosing are evaluated and compared as potential clinical tests to assist in patient care. Identical genotypes were reported by each assay for all samples tested but the assays were found to differ in turnaround time, approval status by the U.S. Food and Drug Administration (FDA), requirements for amount of input genomic DNA and other logistical factors that might make each assay more favorable in different settings.

摘要

对CYP2C9和VKORC1基因常见变异进行基因检测,可为接受口服华法林治疗的患者剂量调整提供有用的临床信息。具体而言,CYP2C92、CYP2C93以及VKORC1 - 1639G>A或VKORC1 1173C>T多态性可用于帮助预测特定患者所需的华法林维持剂量。尽管这种基因分型在临床中的应用和推广较为缓慢,但越来越多的文献证明了采用药物遗传学方法辅助传统华法林给药算法具有临床实用性。多种临床基因分型方法的出现,为分子诊断实验室提供了机会,使其能够根据检测量、人员配备、现有仪器设备以及所需周转时间等变量,推出适合自身特定需求的基因分型检测方法。本文评估并比较了三种旨在检测与华法林剂量相关的三种基因变异的检测方法(Invader、Verigene和TaqMan),将其作为潜在的临床检测方法以辅助患者治疗。所有检测样本的每种检测方法均报告了相同的基因型,但发现这些检测方法在周转时间、美国食品药品监督管理局(FDA)的批准状态、输入基因组DNA的量的要求以及其他可能使每种检测方法在不同环境中更具优势的后勤因素方面存在差异。