Tomek A, Mat'oska V, Kumstýrfová T, Táborský L
Laborator molekulární diagnostiky Oddelení klinické biochemie, hematologie a imunologie Nemocnice Na Homolce Praha.
Vnitr Lek. 2009 Jun;55(6):565-9.
Even with its narrow therapeutic index, interindividual variability in daily dose and possible serious bleeding complications, is warfarin the mainstay of therapy and prevention of thromboembolic disease. The application of pharmacogenetics in testing individual polymorphisms of two genes CYP 2C9 (pharmacokinetics of warfarin) and VKORC1 (sensitivity on warfarin) is promising tactics leading to a safe anticoagulation. The first of two applications of pharmacogenetics is assesment of the daily dose of warfarin for individual patients even before starting the therapy. The second is the risk stratification of already warfarinized patients: The carriers of variant genotype are in a greater risk of bleeding complications. The following article is dedicated to the evaluation of literature and our own laboratory and clinical experience with these applications in clinical practise.
尽管华法林治疗指数狭窄,存在个体间每日剂量差异以及可能出现严重出血并发症,但它仍是血栓栓塞性疾病治疗和预防的主要药物。药物遗传学应用于检测CYP 2C9(华法林药代动力学)和VKORC1(对华法林的敏感性)这两个基因的个体多态性,是实现安全抗凝的一种有前景的策略。药物遗传学的两项应用,一是在治疗开始前评估个体患者的华法林每日剂量,二是对已接受华法林治疗的患者进行风险分层:携带变异基因型的患者出血并发症风险更高。以下文章致力于评估文献以及我们自身实验室和临床实践中这些应用的经验。