Protein S and protein C gene mutations in Japanese deep vein thrombosis patients
Protein S and protein C gene mutations in Japanese deep vein thrombosis patients
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DOI：
10.1016/j.clinbiochem.2005.05.006
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发表时间：
2005-10-01
影响因子：
2.8
通讯作者：
Hamasaki, N
中科院分区：
文献类型：
--
作者：
Kinoshita, S;Iida, H;Hamasaki, N
目的：在日本血栓患者中未检测到凝血因子V莱顿。迄今为止，日本血栓患者的体质背景从未被系统地检查过。我们进行了一项系统的调查，以确定日本人群深静脉血栓形成的发病机制。设计与方法：采用常规凝血和纤溶试验测定蛋白S、蛋白C、抗凝血酶、纤溶酶原和纤维蛋白原的活性。对这些因子活性较低的血栓患者进行基因分析。结果：我们的研究表明，日本患者S蛋白基因突变频率（19/85 = 0.22）是高加索患者S蛋白基因突变频率（8/85 = 0.09）的5 ~ 10倍，C蛋白基因突变频率（8/85 = 0.09）几乎是高加索患者的3倍。抗凝血酶基因突变频率在两种人群中相似。结论：我们的研究强调了蛋白S/蛋白C抗凝系统的遗传异常是日本人群血栓形成的重要危险因素。(c) 2005加拿大临床化学家学会。版权所有。
Objectives: Coagulation factor V Leiden has not been detected in Japanese patients suffering from thrombosis. Hitherto, the constitutional background of Japanese thrombotic patients has never been systematically examined. We have performed a systematic investigation to determine pathogenesis for deep vein thrombosis in a Japanese population.Design and methods: Routine coagulation and fibrinolysis tests were performed to determine the activities of protein S, protein C, antithrombin, plasminogen and fibrinogen. Gene analysis was performed in thrombotic patients having low activities of these factors.Results: Our study indicates that the frequency (19/85 = 0.22) of mutations of protein S gene in the Japanese patients was 5 - 10 times higher than that of mutations of protein S gene in Caucasian patients, and the frequency (8/85 = 0.09) of mutations of protein C gene was almost three times higher than that of Caucasian patients. The frequency of antithrombin gene mutation was similar in both populations.Conclusion: Our study reinforces that the genetic anomaly in the protein S/protein C anticoagulation system is an important risk factor for thrombophilia in the Japanese population. (c) 2005 The Canadian Society of Clinical Chemists. All rights reserved.