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在巴勒斯坦人中,三种促血栓形成的突变(因子 V G1691A、因子 II G20210A 和亚甲基四氢叶酸还原酶 C677T)的高发率。

High prevalence of three prothrombotic polymorphisms among Palestinians: factor V G1691A, factor II G20210A and methylenetetrahydrofolate reductase C677T.

机构信息

Genetics Laboratory, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.

出版信息

J Thromb Thrombolysis. 2012 Oct;34(3):383-7. doi: 10.1007/s11239-012-0731-9.

Abstract

Factor V leiden G1691A/R506Q (FVL), prothrombin G20210A (FII) and methylenetetrahydrofolate reductase (MTHFR) C677T are related genetic risk factors for venous thromboembolism. Analysis for those mutations is increasingly being performed on patients exhibiting hypercoagulability. The objective of this study was to determine the prevalence of FVL, FII-G20210A and MTHFR-C677T polymorphisms and their coexistence among apparently healthy Palestinians. After institutional approval, 303 apparently healthy students from An-Najah University representative to North and South regions of West Bank with no previous history of cardiovascular diseases participated in this study. A uniform questionnaire was used to collect relevant information through personal interview with the subjects. The collected information included gender, age, smoking habits, weight and height, diseases such as diabetes, cardiovascular and family history of CVD. The frequencies of allelic distribution of the three prothrombotic polymorphisms factor V G1691A/R506Q), prothrombin G2010A, and MTHFR-C677T were 0.114, 0.050 and 0.071, respectively. The prevalence of the three thrombotic polymorphisms (FVL, FII G20210A and MTHFR-C677T) were 20.1, 9.1 and 13.8 %, respectively. Statistical analysis for factor V leiden showed no significant association between place of residence (P value = 0.953) and gender (P value >0.082). The data presented in this study showed the highest prevalence of FVL among healthy Palestinians compared to other populations and this important finding should be followed in terms of clinical significance.

摘要

因子 V 莱顿 G1691A/R506Q(FVL)、凝血酶原 G20210A(FII)和亚甲基四氢叶酸还原酶(MTHFR)C677T 是静脉血栓栓塞的相关遗传危险因素。在表现出高凝状态的患者中,越来越多地对这些突变进行分析。本研究的目的是确定 FVL、FII-G20210A 和 MTHFR-C677T 多态性在明显健康的巴勒斯坦人中的流行率及其共存情况。在机构批准后,来自西岸北部和南部地区的 303 名明显健康的纳贾赫大学学生参加了这项研究,他们没有心血管疾病的既往病史。通过与受试者的个人访谈,使用统一的问卷收集相关信息。收集的信息包括性别、年龄、吸烟习惯、体重和身高、糖尿病、心血管疾病和心血管疾病家族史等疾病。三个促血栓形成多态性(因子 V G1691A/R506Q)、凝血酶原 G2010A 和 MTHFR-C677T 的等位基因分布频率分别为 0.114、0.050 和 0.071。三种血栓形成多态性(FVL、FII G20210A 和 MTHFR-C677T)的患病率分别为 20.1%、9.1%和 13.8%。因子 V 莱顿的统计学分析显示,居住地(P 值=0.953)和性别(P 值>0.082)之间没有显著关联。本研究提供的数据显示,与其他人群相比,FVL 在健康巴勒斯坦人中的患病率最高,这一重要发现应在临床意义方面得到关注。

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