Strisciuglio Teresa, Franco Danilo, Di Gioia Giuseppe, De Biase Chiara, Morisco Carmine, Trimarco Bruno, Barbato Emanuele
Division of Cardiology, Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
Cardiovasc Diagn Ther. 2018 Oct;8(5):610-620. doi: 10.21037/cdt.2018.05.06.
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.
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。