Role of genetic testing in patients undergoing percutaneous coronary intervention.
Role of genetic testing in patients undergoing percutaneous coronary intervention.
复制标题
基因检测在接受经皮冠状动脉介入治疗的患者中的作用。
DOI：
10.1080/17512433.2017.1353909
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发表时间：
2018-03
影响因子：
4.4
通讯作者：
Angiolillo DJ
中科院分区：
文献类型：
--
作者：
Moon JY;Franchi F;Rollini F;Rivas Rios JR;Kureti M;Cavallari LH;Angiolillo DJ
个体对抗血小板治疗，特别是氯吡格雷反应的差异是一个公认的现象。细胞色素P450 (CYP) 2C19酶是氯吡格雷代谢的关键决定因素，其遗传变异与氯吡格雷反应谱有关。此外，在接受氯吡格雷治疗的经皮冠状动脉介入治疗（PCI）的患者中，CYP2C19功能缺失等位基因的存在与动脉粥样硬化血栓事件的风险增加有关，这促使研究评估使用基因检测来识别可能是替代血小板P2Y12受体抑制治疗（普拉格雷或替格瑞洛）的潜在候选人的患者。本文概述了与血小板P2Y12受体抑制剂反应概况相关的遗传因素及其临床意义，以及基因检测在PCI患者中的作用的最新进展和未来考虑。更多用户友好型基因检测的可用性有助于许多正在进行的临床试验和针对PCI患者的个性化医疗方案的发展。试点研究的结果显示出有希望的结果，然而，这需要在更大规模的研究中得到证实，以支持常规使用基因检测作为个性化抗血小板治疗和改善临床结果的策略。
Variability in individual response profiles to antiplatelet therapy, in particular clopidogrel, is a well-established phenomenon. Genetic variations of the cytochrome P450 (CYP) 2C19 enzyme, a key determinant in clopidogrel metabolism, have been associated with clopidogrel response profiles. Moreover, the presence of a CYP2C19 loss-of-function allele is associated with an increased risk of atherothrombotic events among clopidogrel-treated patients undergoing percutaneous coronary interventions (PCI), prompting studies evaluating the use of genetic tests to identify patients who may be potential candidates for alternative platelet P2Y12 receptor inhibiting therapies (prasugrel or ticagrelor). The present manuscript provides an overview of genetic factors associated with response profiles to platelet P2Y12 receptor inhibitors and their clinical implications, as well as the most recent developments and future considerations on the role of genetic testing in patients undergoing PCI. The availability of more user-friendly genetic tests has contributed towards the development of many ongoing clinical trials and personalized medicine programs for patients undergoing PCI. Results of pilot investigations have shown promising results, which however need to be confirmed in larger-scale studies to support the routine use of genetic testing as a strategy to personalize antiplatelet therapy and improve clinical outcomes.
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