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Prevalence Of Prothrombotic Polymorphisms In Greece

机译:希腊血栓前多态性的患病率

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The aim of this study was to assess the prevalence of several polymorphisms in genes that are involved in several pathways such as hemostasis, fibrinolysis, platelet membrane receptor activity, endothelial integrity and function, lipid metabolism, and regulation of blood pressure in healthy subjects of Greek origin. Most of these polymorphisms are mainly associated with conditions such as venous thromboembolism and atherothrombosis, and their prevalence has not been studied yet in Greece. We tested 140 healthy individuals for factor V (FV)1691G/A, FV4070G/A, FII 20210G/A, factor XIII (FXIII) exon 2G/T, fibrinogen β-455G/A, plasminogen activator inhibitor-1 (PAI-l)-675 4G/5G, human platelet antigens 1 (HPA1) a/b, apolipoprotein B (ApoB) 10708 G/A, apolipoprotein E (ApoE) E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5,10 methylenete-trahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a PCR and reverse hybridization technique that detects all of them simultaneously.The allele frequencies observed are in accordance with those reported in other Caucasian populations and almost identical to those of East Mediterranean populations. This first report from Greece may serve as a baseline for planning further investigations of these polymorphisms in association with several clinical entities and for launching guidelines for patient testing of various disease settings in this population.
机译:这项研究的目的是评估希腊健康受试者中涉及止血,纤维蛋白溶解,血小板膜受体活性,内皮完整性和功能,脂质代谢以及血压调节等几种途径的基因中几种多态性的普遍性。起源。这些多态性中的大多数主要与诸如静脉血栓栓塞和动脉粥样硬化血栓形成等疾病有关,在希腊尚未对其流行进行研究。我们测试了140名健康个体的因子V(FV)1691G / A,FV4070G / A,FII 20210G / A,因子XIII(FXIII)外显子2G / T,纤维蛋白原β-455G/ A,纤溶酶原激活物抑制剂1(PAI-1 )-675 4G / 5G,人血小板抗原1(HPA1)a / b,载脂蛋白B(ApoB)10708 G / A,载脂蛋白E(ApoE)E2,E3和E4,血管紧张素转换酶(ACE)D / I ,5,10亚甲基四氢叶酸还原酶(MTHFR)677C / T和MTHFR 1298A / C多态性使用PCR和反向杂交技术同时检测到,它们的等位基因频率与其他高加索人群和几乎与东地中海人口相同。希腊的第一份报告可以作为基线,与一些临床实体一起计划对这些多态性进行进一步研究,并为针对该人群中各种疾病的患者测试启动指南。

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