Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: prevalence and risk assessment.
Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: prevalence and risk assessment.
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特发性静脉血栓栓塞患者的单一和组合促血栓因素：患病率和风险评估。
DOI：
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发表时间：
1999
期刊：
影响因子：
--
通讯作者：
U. Seligsohn
中科院分区：
文献类型：
--
作者：
O. Salomon;D. Steinberg;A. Zivelin;S. Gitel;R. Dardik;N. Rosenberg;S. Berliner;A. Inbal;A. Many;A. Lubetsky;D. Varon;U. Martinowitz;U. Seligsohn
遗传性血栓形成倾向-蛋白质C，蛋白质S和抗凝血酶III的缺乏-和血栓前多态性因子V G1691 A和因子II G20210 A使患者易于发生静脉血栓栓塞（VTE）。本研究的目的是确定特发性VTE患者中单一和联合血栓形成因素的患病率，并估计相关风险。研究组包括162例在记录的VTE后转诊接受血栓形成倾向检查的患者。对照组为336例连续住院患者。在所有受试者因子V G1691 A，因子II G20210 A，和亚甲基四氢叶酸还原酶（MTHFR）C677 T进行了分析，通过特定的聚合酶链反应和限制性内切酶。在109例未接受口服抗凝剂的患者中测定抗凝血酶III和蛋白C、游离蛋白S抗原和狼疮抗凝剂的活性。患者和对照组中因子V G1691 A和因子II G20210 A的杂合子和纯合子的患病率分别为40.1%和3.9%，18.5%和5.4%（P=0.0001）。MTHFR C677 T基因纯合子的检出率分别为22.8%和14.3%（P=0.025）。杂合子和纯合子因子V G1691 A、因子II G20210 A和纯合子MTHFR C677 T被发现是VTE的独立危险因素，比值比分别为16.3、3.6和2.1。162名患者中有27名（16.7%）和336名对照中有3名（0.9%）检测到两种或多种多态性。Logistic回归分析显示，因子V和因子II多态性联合发生的优势比为58.6（置信区间[CI]，22.1至155.2），因子V和MTHFR多态性的优势比为35.0（CI，14.5至84.7），因子II和MTHFR多态性的优势比为7.7（CI，3.0至19.6）。在109例进行了完整的血栓形成检查的患者中，74%至少有1个潜在缺陷。这些数据表明，在大多数因特发性VTE而接受血栓形成倾向评价的患者中，可识别出1种或多种基础遗传易感性。血栓前多态性中>1个的存在与VTE的显著风险相关。
The inherited thrombophilias--deficiencies of protein C, protein S, and antithrombin III--and the prothrombotic polymorphisms factor V G1691A and factor II G20210A predispose patients toward venous thromboembolism (VTE). The aim of this study was to determine the prevalence of single and combined prothrombotic factors in patients with idiopathic VTE and to estimate the associated risks. The study group consisted of 162 patients referred for work-up of thrombophilia after documented VTE. The controls were 336 consecutively admitted patients. In all subjects factor V G1691A, factor II G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T were analyzed by specific polymerase chain reactions and restriction enzymes. Activities of antithrombin III and protein C, free protein S antigen, and lupus anticoagulant were determined in a subset of 109 patients who were not receiving oral anticoagulants. The prevalences of heterozygotes and homozygotes for factor V G1691A and factor II G20210A among patients and controls were 40.1% versus 3.9% and 18.5% versus 5.4%, respectively (P=0.0001). The prevalence of homozygotes for MTHFR C677T in patients was 22.8% and in controls, 14.3% (P=0.025). Heterozygous and homozygous factor V G1691A, factor II G20210A, and homozygous MTHFR C677T were found to be independent risk factors for VTE, with odds ratios of 16.3, 3.6, and 2.1, respectively. Two or more polymorphisms were detected in 27 of 162 patients (16.7%) and in 3 of 336 controls (0.9%). Logistic regression analysis disclosed odds ratios of 58.6 (confidence interval [CI], 22.1 to 155.2) for joint occurrence of factor V and factor II polymorphisms, of 35.0 (CI, 14.5 to 84.7) for factor V and MTHFR polymorphisms, and of 7.7 (CI, 3.0 to 19.6) for factor II and MTHFR polymorphisms. Among 109 patients in whom a complete thrombophilic work-up was performed, 74% had at least 1 underlying defect. These data indicate that in most patients referred for evaluation of thrombophilia due to idiopathic VTE, 1 or more underlying genetic predispositions were discernible. The presence of >1 of the prothrombotic polymorphisms was associated with a substantial risk of VTE.
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在先前描述的具有大量血栓形成的纯合蛋白 C 缺陷新生儿的一个大家族中，静脉血栓栓塞与因子 V R506Q 突变和蛋白 C T298M 突变双杂合性相关。
影响因子：
20.3
作者：
Brenner,B;Zivelin,A;Lanir,N;Greengard,JS;Griffin,JH;Seligsohn,U
通讯作者：
Seligsohn,U
因子 V Leiden——无私的基因？
DOI：
10.1056/nejm199412083312310
发表时间：
1994
期刊：
The New England journal of medicine
影响因子：
--
作者：
Hajjar,KA
通讯作者：
Hajjar,KA
影响因子：
37.8
作者：
Jacques, PF;Bostom, AG;Rozen, R
通讯作者：
Rozen, R
简要报告：由于因子 V 基因中的 Arg-->Gln 突变，对活化蛋白 C 具有抗性的纯合兄弟姐妹中血栓形成的变异性。
DOI：
10.1056/nejm199412083312305
发表时间：
1994
期刊：
The New England journal of medicine
影响因子：
--
作者：
Greengard,JS;Eichinger,S;Griffin,JH;Bauer,KA
通讯作者：
Bauer,KA