关键词: Coagulation factor II Genetic counseling Population genetics, Thrombophilia Prothrombin Coagulation factor II Genetic counseling Population genetics, Thrombophilia Prothrombin

Mesh : Factor V / genetics Humans Male Mutation Prothrombin / genetics Risk Factors Thrombophilia / genetics Thrombosis / genetics

来  源:   DOI:10.1007/978-3-030-78787-5_40

Abstract:
BACKGROUND: One of the most common genetic causes associated with thrombophilia is mutation G20210A of the coagulation factor II (F2) gene.
METHODS: Data collected from 355 unrelated Greeks examined for the mutation G20210A over a period of two decades were anonymously analyzed.
RESULTS: The statistical analysis confirmed the importance of F2 G20210A in thrombosis and the significance of a positive family history of thrombosis. An interesting finding was the increased prevalence of G20210A in men with thrombotic events aged >40 years.
CONCLUSIONS: This study highlighted the great value of a positive family history of thrombosis and the importance of testing for this common mutation as a putative prevention strategy and a future biomarker for thrombophilia.
摘要:
背景:与血栓形成有关的最常见的遗传原因之一是凝血因子II(F2)基因的G20210A突变。
方法:匿名分析了从355名不相关的希腊人收集的数据,这些希腊人在20年的时间内检查了突变G20210A。
结果:统计分析证实了F2G20210A在血栓形成中的重要性以及血栓形成的阳性家族史的重要性。一个有趣的发现是G20210A在年龄>40岁有血栓事件的男性中的患病率增加。
结论:这项研究强调了血栓形成家族史阳性的巨大价值,以及检测这种常见突变作为血栓形成倾向的一种推定预防策略和未来生物标志物的重要性。
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