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FII、FV、F13A1、FGB 和 PAI-1 基因的序列变异与心肌灌注的差异有关。

Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion.

机构信息

Department of Biology & Genetics, University of Thessalia, Larissa, Greece.

出版信息

Pharmacogenomics. 2011 Feb;12(2):195-203. doi: 10.2217/pgs.10.180.

Abstract

AIMS

Coronary artery disease (CAD) is a significant cause of morbidity and mortality in modern societies. The association between genetic markers and CAD is still poorly understood. In this study, we evaluated the effect of five genetic variants: Factor V Leiden (FV:c.1691G>A) (rs6025), Factor II prothrombin (FII:c.20210G>A; rs1799963), plasminogen activator inhibitor 1 (PAI-1) -675(4G/5G; SERPINE1:g.4329_4330insG; rs34857375), β-fibrinogen -455G>A (FGB:c.4577G>A; rs1800790) and Factor XIII (F13A1:c.103G>T; rs5985) on myocardial perfusion.

MATERIALS & METHODS: We examined 523 patients using exercise-rest myocardial perfusion single photon emission computed tomography, where the summed stress score (SSS), summed rest score and summed difference score (SDS) indexes, were calculated. In order to examine the independent prognostic ability of genotype on SSS and SDS, multiple linear regression models were used.

RESULTS

It was found that Factor V Leiden, Factor XIII, β-fibrinogen and PAI-1 genotypes were independent prognostic predictors of SSS and SDS with Factor XIII exhibiting the strongest association. Moreover, Factor II prothrombin proved an independent prognostic predictor of SSS.

CONCLUSION

Our study provides the first evidence of an association between these polymorphisms and myocardial perfusion, suggesting that the process of coronary artery disease and also patients' prognosis, may be modified by the FV:c.1691G>A, FII:c.20210G>A, PAI-1 -675 (4G/5G), β-fibrinogen FGB:c.4577G>A and F13A1:c.103G>T genotypes.

摘要

目的

冠心病(CAD)是现代社会发病率和死亡率的重要原因。遗传标志物与 CAD 的关联仍知之甚少。在这项研究中,我们评估了五个遗传变异的影响:因子 V 莱顿(FV:c.1691G>A)(rs6025)、因子 II 凝血酶原(FII:c.20210G>A;rs1799963)、纤溶酶原激活物抑制剂 1(PAI-1)-675(4G/5G;SERPINE1:g.4329_4330insG;rs34857375)、β-纤维蛋白原-455G>A(FGB:c.4577G>A;rs1800790)和因子 XIII(F13A1:c.103G>T;rs5985)对心肌灌注的影响。

材料和方法

我们使用运动-休息心肌灌注单光子发射计算机断层扫描检查了 523 名患者,计算了总和应激评分(SSS)、总和静息评分和总和差值评分(SDS)指数。为了检查基因型对 SSS 和 SDS 的独立预后能力,我们使用了多元线性回归模型。

结果

发现因子 V 莱顿、因子 XIII、β-纤维蛋白原和 PAI-1 基因型是 SSS 和 SDS 的独立预后预测因子,其中因子 XIII 的相关性最强。此外,因子 II 凝血酶原被证明是 SSS 的独立预后预测因子。

结论

我们的研究首次提供了这些多态性与心肌灌注之间关联的证据,表明冠状动脉疾病的发生过程和患者的预后可能会受到 FV:c.1691G>A、FII:c.20210G>A、PAI-1-675(4G/5G)、β-纤维蛋白原 FGB:c.4577G>A 和 F13A1:c.103G>T 基因型的修饰。

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