Lillicrap D
Department of Pathology, Queen's University, 99 University Avenue, Kingston, Ontario, K7L 3N6, Canada.
Curr Atheroscler Rep. 2001 May;3(3):209-15. doi: 10.1007/s11883-001-0063-2.
There is substantial evidence to indicate that the pathologic processes of venous and arterial thromboembolism involve both genetic and environmental influences. Scientific progress over the past decade has revealed a growing number of genetic factors, such as factor V Leiden and the prothrombin gene variant, that are present in more than 1% of the population and increase the relative risk of venous thrombosis between two- and sevenfold. Furthermore, several of these factors have been demonstrated to interact adversely with environmental influences, such as oral contraceptives and smoking. Although these traits are present at relatively high prevalence in the population, the magnitude of the increased thrombotic risk associated with these factors is substantially less than that related to inherited deficiency of the natural anticoagulant protein antithrombin, and somewhat less than the elevated risk with protein C and protein S deficiencies. In contrast to the progress that has been made in understanding the genetic contributions to venous thromboembolism, much still remains to be learned about the genetic basis of arterial thrombosis. Despite the documentation of associations between several genetic polymorphisms with plasma procoagulant levels, consistent associations with arterial thrombotic disease have not been found.
有大量证据表明，静脉和动脉血栓栓塞的病理过程涉及遗传和环境因素。过去十年的科学进展揭示了越来越多的遗传因素，如凝血因子V莱顿突变和凝血酶原基因变异，这些因素在超过1%的人群中存在，并使静脉血栓形成的相对风险增加两到七倍。此外，已证实其中一些因素会与环境因素产生不良相互作用，如口服避孕药和吸烟。尽管这些特征在人群中的患病率相对较高，但与这些因素相关的血栓形成风险增加幅度远低于与天然抗凝蛋白抗凝血酶遗传性缺乏相关的风险，也略低于蛋白C和蛋白S缺乏时的风险升高幅度。与在理解静脉血栓栓塞的遗传因素方面取得的进展相比，关于动脉血栓形成的遗传基础仍有许多有待了解之处。尽管有文献记录了几种基因多态性与血浆促凝水平之间的关联，但尚未发现与动脉血栓性疾病的一致关联。
