Hillarp A, Zöller B, Svensson P J, Dahlbäck B
Department of Clinical Chemistry, Lund University, University Hospital, Malmö, Sweden.
Thromb Haemost. 1997 Sep;78(3):990-2.
A dimorphism in the 3'-untranslated region of the prothrombin gene (G to A transition at position 20210) has recently been reported to be associated with increases in plasma prothrombin levels and in the risk of venous thrombosis. We have examined the prothrombin dimorphism among 99 unselected outpatients with phlebography verified deep venous thrombosis, and in 282 healthy controls. The prevalence of the 20210 A allele was 7.1% (7/99) in the patient group, and 1.8% (5/282) in the healthy control group (p = 0.0095). The relative risk of venous thrombosis was calculated to be 4.2 (95% CI, 1.3 to 13.6), and was still significant when adjustment was made for age, sex and the factor V:R506Q mutation causing APC resistance [odds ratio 3.8 (95% CI, 1.1 to 13.2)]. As previously reported, 28% of the patients were carriers of the factor V:R506Q mutation. Thus, 34% (one patient carried both traits) of unselected patients with deep venous thrombosis were carriers of an inherited prothrombotic disorder. To sum up, our results confirm the 20210 A allele of the prothrombin gene to be an important risk factor for venous thrombosis.
凝血酶原基因3'非翻译区的一种二态性（第20210位发生G到A的转变）最近有报道称与血浆凝血酶原水平升高及静脉血栓形成风险增加有关。我们对99例经静脉造影证实患有深静脉血栓形成的未经选择的门诊患者以及282例健康对照者进行了凝血酶原二态性检测。20210 A等位基因在患者组中的患病率为7.1%（7/99），在健康对照组中为1.8%（5/282）（p = 0.0095）。计算得出静脉血栓形成的相对风险为4.2（95%可信区间，1.3至13.6），在对年龄、性别以及导致活化蛋白C抵抗的因子V：R506Q突变进行校正后，该风险仍然显著[比值比3.8（95%可信区间，1.1至13.2）]。如先前报道，28%的患者是因子V：R506Q突变的携带者。因此，在未经选择的深静脉血栓形成患者中，34%（1例患者同时携带这两种特征）是遗传性血栓形成倾向疾病的携带者。总之，我们的结果证实凝血酶原基因的20210 A等位基因是静脉血栓形成的一个重要危险因素。
