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首页> 外文期刊>Current opinion in lipidology >Genetics of thrombophilia: impact on atherogenesis.
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Genetics of thrombophilia: impact on atherogenesis.

机译：血栓形成的遗传学：对动脉粥样硬化的影响。

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PURPOSE OF REVIEW: The goal of this review is to present an update on basic and epidemiological findings associating variants in prothrombotic genes with atherogenesis and atherothrombotic disease. RECENT FINDINGS: The relation between atherosclerosis and thrombosis has long been recognized but only recently has it been understood that certain hemostatic factors affect not only thrombus formation, but also have a direct atherogenic role. Atherosclerosis is a complex disorder that results from the interaction of multiple genetic and environmental factors. Numerous polymorphisms and mutations in genes related to the hemostatic system and to vascular redox determinants that modulate nitric oxide bioavailability have been identified in the past decade; their role in atherogenesis and the risk of cardiovascular disease, however, remain uncertain. We will discuss the functional implications and association with disease risk of polymorphisms in coagulation factors (fibrinogen, prothrombin, and factor V); fibrinolytic factors (plasminogen activator inhibitor 1 and lipoprotein(a)); platelet surface receptors; and vascular redox determinants (methylenetetrahydrofolate reductase, endothelial nitric oxide synthase, and the antioxidant enzymes cellular glutathione peroxidase and paraoxonase). SUMMARY: Overall, these genetic variants have a modest effect on risk when considered individually but gain potency when acting synergistically with other genetic or environmental risk factors. We conclude that a better characterization of these interactions, in addition to the identification of potential novel genetic determinants, constitute key issues in the future understanding of the pathogenesis of atherothrombosis.
机译：审查的目的：这次审查的目的是提出有关将血栓形成前基因的变异与动脉粥样硬化和动脉粥样硬化性疾病相关的基本和流行病学发现的更新。最近的发现：动脉粥样硬化与血栓形成之间的关系早已被认识，但直到最近才知道某些止血因素不仅影响血栓形成，而且具有直接的动脉粥样硬化作用。动脉粥样硬化是一种复杂的疾病，是由多种遗传和环境因素的相互作用导致的。在过去的十年中，已经发现了与止血系统和调节一氧化氮生物利用度的血管氧化还原决定簇有关的基因中的许多多态性和突变。然而，它们在动脉粥样硬化形成中的作用和心血管疾病的风险仍然不确定。我们将讨论凝血因子（纤维蛋白原，凝血酶原和因子V）中多态性的功能含义及其与疾病风险的关系;纤溶因子（纤溶酶原激活物抑制剂1和脂蛋白（a））;血小板表面受体和血管氧化还原决定簇（亚甲基四氢叶酸还原酶，内皮型一氧化氮合酶，以及细胞谷胱甘肽过氧化物酶和对氧磷酶的抗氧化酶）。总结：总体而言，这些遗传变异在单独考虑时对风险影响不大，但在与其他遗传或环境风险因素协同作用时则具有更大的效力。我们得出的结论是，这些相互作用的更好表征，除了潜在的新型遗传决定因素的鉴定，还构成了对动脉粥样硬化发病机理未来认识的关键问题。

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