Wu K K
Vascular Biology Research Center, Department of Internal Medicine and Pathology, University of Texas-Houston Medical School, 77030, USA.
J Cardiovasc Risk. 1997 Oct-Dec;4(5-6):347-52.
This article summarizes the genetic markers of human venous and arterial thrombotic disorders. For venous thromboembolism, a factor V mutation (Arg 506-->Gln) has the highest risk, followed by protein C, S and antithrombin III gene defects. By contrast, these genetic defects are not associated significantly with arterial atherothrombotic disorders. Instead, a glycoprotein IIIa polymorphism (Pro33 versus Leu 33) has been reported to be associated with myocardial infarction. Fibrinogen Bbeta chain, factor VII, and plasminogen activator inhibitor-1 gene polymorphisms have been reported to influence the plasma levels of these factors and may indirectly be risk factors for arterial thrombotic disorders. Further studies will uncover additional genetic markers for thrombosis.
本文总结了人类静脉和动脉血栓形成性疾病的遗传标志物。对于静脉血栓栓塞，因子V突变（精氨酸506→谷氨酰胺）风险最高，其次是蛋白C、S和抗凝血酶III基因缺陷。相比之下，这些遗传缺陷与动脉粥样血栓形成性疾病无显著关联。相反，据报道糖蛋白IIIa多态性（脯氨酸33与亮氨酸33）与心肌梗死有关。据报道，纤维蛋白原Bβ链、因子VII和纤溶酶原激活物抑制剂-1基因多态性会影响这些因子的血浆水平，可能间接成为动脉血栓形成性疾病的危险因素。进一步的研究将发现更多血栓形成的遗传标志物。
