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本文引用的文献

1
Pharmacogenomic Approach to Selecting Antiplatelet Therapy in Patients With Acute Coronary Syndromes: The PHARMCLO Trial.基于药物基因组学的急性冠脉综合征患者抗血小板治疗选择:PHARMCLO 试验。
J Am Coll Cardiol. 2018 May 1;71(17):1869-1877. doi: 10.1016/j.jacc.2018.02.029. Epub 2018 Mar 11.
2
T2238C Atrial Natriuretic Peptide Gene Variant and the Response to Antiplatelet Therapy in Stable Ischemic Heart Disease Patients.T2238C 心房利钠肽基因变异与稳定型缺血性心脏病患者抗血小板治疗反应的关系。
J Cardiovasc Transl Res. 2018 Feb;11(1):36-41. doi: 10.1007/s12265-017-9774-9. Epub 2017 Dec 5.
3
Genetic variants of PTGS2, TXA2R and TXAS1 are associated with carotid plaque vulnerability, platelet activation and TXA2 levels in ischemic stroke patients.PTGS2、TXA2R和TXAS1的基因变异与缺血性中风患者的颈动脉斑块易损性、血小板活化及TXA2水平相关。
PLoS One. 2017 Jul 12;12(7):e0180704. doi: 10.1371/journal.pone.0180704. eCollection 2017.
4
C2238 ANP gene variant promotes increased platelet aggregation through the activation of Nox2 and the reduction of cAMP.C2238 ANP 基因变异通过激活 Nox2 和减少 cAMP 促进血小板聚集增加。
Sci Rep. 2017 Jun 19;7(1):3797. doi: 10.1038/s41598-017-03679-9.
5
Association of Platelet Membrane Glycoprotein HPA-2a/b, GP VI T13254C, and GP Ib VNTR Polymorphisms with Risk of Coronary Artery Disease: A Meta-Analysis.血小板膜糖蛋白HPA-2a/b、GP VI T13254C和GP Ib VNTR多态性与冠状动脉疾病风险的关联:一项荟萃分析
Biomed Res Int. 2017;2017:1538750. doi: 10.1155/2017/1538750. Epub 2017 May 18.
6
The risk of clopidogrel resistance is associated with ABCB1 polymorphisms but not promoter methylation in a Chinese Han population.在中国汉族人群中,氯吡格雷抵抗的风险与ABCB1基因多态性有关,而与启动子甲基化无关。
PLoS One. 2017 Mar 30;12(3):e0174511. doi: 10.1371/journal.pone.0174511. eCollection 2017.
7
Is the concomitant use of clopidogrel and Proton Pump Inhibitors still associated with increased adverse cardiovascular outcomes following coronary angioplasty?: a systematic review and meta-analysis of recently published studies (2012 - 2016).冠状动脉血管成形术后,氯吡格雷与质子泵抑制剂联合使用是否仍与不良心血管结局增加相关?:对近期发表的研究(2012 - 2016年)的系统评价和荟萃分析
BMC Cardiovasc Disord. 2017 Jan 5;17(1):3. doi: 10.1186/s12872-016-0453-6.
8
CYP2C19 but not CYP2B6, CYP3A4, CYP3A5, ABCB1, PON1 or P2Y12 genetic polymorphism impacts antiplatelet response after clopidogrel in Koreans.在韩国人群中,CYP2C19基因多态性而非CYP2B6、CYP3A4、CYP3A5、ABCB1、PON1或P2Y12基因多态性会影响氯吡格雷治疗后的抗血小板反应。
Blood Coagul Fibrinolysis. 2017 Jan;28(1):56-61. doi: 10.1097/MBC.0000000000000536.
9
The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.全基因组关联研究对心血管疾病病理生理学及治疗的影响。
EMBO Mol Med. 2016 Jul 1;8(7):688-701. doi: 10.15252/emmm.201506174. Print 2016 Jul.
10
Association of PEAR1 genetic variants with platelet reactivity in response to dual antiplatelet therapy with aspirin and clopidogrel in the Chinese patient population after percutaneous coronary intervention.在中国经皮冠状动脉介入治疗后的患者群体中,PEAR1基因变异与阿司匹林和氯吡格雷双重抗血小板治疗反应中血小板反应性的关联。
Thromb Res. 2016 May;141:28-34. doi: 10.1016/j.thromres.2016.02.031. Epub 2016 Mar 2.

基因多态性对血小板功能及抗血小板药物反应的影响

Impact of genetic polymorphisms on platelet function and response to anti platelet drugs.

作者信息

Strisciuglio Teresa, Franco Danilo, Di Gioia Giuseppe, De Biase Chiara, Morisco Carmine, Trimarco Bruno, Barbato Emanuele

机构信息

Division of Cardiology, Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.

出版信息

Cardiovasc Diagn Ther. 2018 Oct;8(5):610-620. doi: 10.21037/cdt.2018.05.06.

DOI:10.21037/cdt.2018.05.06
PMID:30498685
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6232354/
Abstract

Cardiovascular genomic consists in the identification of polymorphic genes responsible for the susceptibility to cardiovascular disease including coronary artery disease (CAD). Genes involved in platelet activation and aggregation play a key role in the predisposition to CAD. A considerable inter-variability of platelet response to agonists and to drugs exists and in particular the hyper-reactivity phenotype seems to be heritable. Besides glycoproteins and receptors expressed on platelets surface whose mutations significantly impact on platelet function, moreover researchers in the last decades have paid great attention to the genes involved in the response to anti-platelet drugs, considering their pivotal role in the treatment and outcomes of CAD patients especially those undergoing PCI. With the outbreak of advanced techniques developed to analyse human genetic footprints, researchers nowadays have shifted from genetic linkage analysis and a candidate gene approach toward genome-wide association (GWAS) studies and the analysis of miRNA-mRNA expression profiles.

摘要

心血管基因组学在于识别导致心血管疾病易感性的多态性基因,包括冠状动脉疾病(CAD)。参与血小板活化和聚集的基因在CAD易感性中起关键作用。血小板对激动剂和药物的反应存在相当大的个体差异,尤其是高反应性表型似乎具有遗传性。除了血小板表面表达的糖蛋白和受体,其突变对血小板功能有显著影响外,此外,在过去几十年中,研究人员非常关注参与抗血小板药物反应的基因,因为它们在CAD患者尤其是接受PCI的患者的治疗和预后中起着关键作用。随着用于分析人类遗传足迹的先进技术的出现,如今研究人员已从遗传连锁分析和候选基因方法转向全基因组关联(GWAS)研究以及miRNA-mRNA表达谱分析。