Souto J C, Coll I, Llobet D, del Río E, Oliver A, Mateo J, Borrell M, Fontcuberta J
Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barceolan, Spain.
Thromb Haemost. 1998 Sep;80(3):366-9.
We investigated the prevalence of the new recently reported mutation in the prothrombin gene (20210 A) in a sample of 116 unrelated patients with venous thromboembolism. We found 20 heterozygous carriers (17.2%, CI 95% 10.4-21.1). In comparison, we observed 13 carriers among 201 healthy unmatched controls (6.5%, CI 3.5-10.8). The 20210 A mutation seems to increase the risk of venous thrombosis 3-fold (odds ratio 3.1, 95% CI 1.4-6.6). Considering only patients with a first event (n = 62) the OR was 2.0 (p = 0.18, NS) while those with recurrent events (n = 54) showed an OR of 5.9 (95% CI 2.5-14.4). A majority of heterozygous patients (55%) presented a second thrombophilic factor and 60% of affected females had their first event before 30 years of age, while on oral contraceptive treatment. The prevalence found in this study for healthy people is the highest reported to date. The 20210 A variant appears to be the most prevalent genetic risk factor among patients with thrombosis in our geographical area.
我们在116例无亲缘关系的静脉血栓栓塞患者样本中，调查了凝血酶原基因新报道突变（20210A）的发生率。我们发现20例杂合子携带者（17.2%，95%置信区间10.4 - 21.1）。相比之下，在201名健康非匹配对照者中观察到13例携带者（6.5%，95%置信区间3.5 - 10.8）。20210A突变似乎使静脉血栓形成风险增加3倍（优势比3.1，95%置信区间1.4 - 6.6）。仅考虑首次发病患者（n = 62）时，优势比为2.0（p = 0.18，无统计学意义），而复发患者（n = 54）的优势比为5.9（95%置信区间2.5 - 14.4）。大多数杂合子患者（55%）存在第二种血栓形成倾向因素，60%的患病女性在30岁之前首次发病，当时正在接受口服避孕药治疗。本研究中发现的健康人群发生率是迄今为止报道的最高值。在我们所在地理区域，20210A变异似乎是血栓形成患者中最普遍的遗传风险因素。
