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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians
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The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians

机译:埃及人血栓调节蛋白G33A和C1418T基因多态性与急性心肌梗死风险的关系

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Background Acute myocardial infarction (AMI) is one of the major causes of morbidity and mortality worldwide. There is an increased interest in the genetic risk factors in the pathogenesis of ischemic heart disease. Thrombomodulin (TM), a natural anticoagulant, may play a critical role in the pathogenesis of AMI. Aim of the study To assess whether Thrombomodulin (TM) G33A and C1418T gene polymorphisms are related to the risk of AMI in Egyptians or not. Subjects and methods 102 AMI patients were recruited vs 110 healthy controls. For every subject, measurement of plasma soluble Thrombomodulin level was done by enzyme-linked immunosorbent assay (ELISA). Further, DNA samples were genotyped by PCR-RFLP method for the TM G33A polymorphism and by PCR-ASO for the TM C1418T polymorphism. Results Our results revealed that the C1418T gene polymorphism was significantly associated with increased risk of AMI ( CT : OR=2.34, 95% CI=1.28–4.29, P=0.006; TT : OR=8.03, 95% CI=0.97–66.47, P=0.026; CT + TT : OR=2.65, 95% CI=1.47–4.78, P=0.001; T allele: OR=2.51, 95% CI=1.51–4.18, P<0.001). On the other side, the TM G33A polymorphism was not detectable in any of patients or controls. Further, plasma soluble TM concentrations were higher in AMI patients, compared to the control group (P<0.001). Conclusions TM 1418C>T gene polymorphism, but not TM 33-G>A, may be associated with an increased risk of AMI in the Egyptian population. These results may have clinical implication in the management of AMI in the future.
机译:背景技术急性心肌梗塞(AMI)是全世界发病率和死亡率的主要原因之一。缺血性心脏病发病机理中的遗传危险因素引起了人们越来越大的兴趣。血栓调节蛋白(TM)是一种天然抗凝剂,可能在AMI的发病机理中起关键作用。研究的目的是评估血栓调节蛋白(TM)G33A和C1418T基因多态性是否与埃及人发生AMI的风险有关。受试者和方法招募了102名AMI患者与110名健康对照组。对于每个受试者,通过酶联免疫吸附测定(ELISA)测量血浆可溶性血栓调节蛋白水平。此外,通过PCR-RFLP方法对TM G33A多态性和通过PCR-ASO对TM C1418T多态性对DNA样品进行基因分型。结果我们的结果显示C1418T基因多态性与AMI风险增加显着相关(CT:OR = 2.34,95%CI = 1.28–4.29,P = 0.006; TT:OR = 8.03,95%CI = 0.97–66.47, P = 0.026; CT + TT:OR = 2.65,95%CI = 1.47-4.78,P = 0.001; T等位基因:OR = 2.51,95%CI = 1.51-4.18,P <0.001)。另一方面,在任何患者或对照中均未检测到TM G33A多态性。此外,与对照组相比,AMI患者的血浆可溶性TM浓度更高(P <0.001)。结论TM 1418C> T基因多态性而非TM 33-G> A多态性可能与埃及人群发生AMI的风险增加有关。这些结果可能在将来对AMI的管理具有临床意义。

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