Leroyer C, Mercier B, Oger E, Chenu E, Abgrall J F, Férec C, Mottier D
Department of Internal Medicine and Chest Diseases, CHRU de la Cavale Blanche, Brest, France.
Thromb Haemost. 1998 Jul;80(1):49-51.
The 20210 A allele variation in the 3' -untranslated region of the prothrombin gene was recently identified as a risk factor as regards deep venous thrombosis.
To assess the frequency of the variation in unselected patients with a proven venous thromboembolism (VTE).
The presence of the prothrombin variation was determined in all consecutive patients referred from July 1994 to August 1997 for a clinical suspicion of VTE, and in whom the diagnosis was confirmed. A control group consisted of bone marrow volunteer donors.
Of the 366 patients included, 17 (4.6%) were carriers of the 20210 A allele (95% CI, 2.4% to 6.7%). The mutation was present in 1.0% of the 400 controls. Odds ratio for having VTE in the presence of the 20210 A allele was 4.8 (95% CI, 1.5 to 19.8). Forty-six (12.5%) patients had the mutation of the factor V gene and five (1.4%) patients shared both mutations. After excluding the carriers of the factor V mutation, odds ratio for having VTE in the presence of the 20210 A allele was 3.7 (95% CI, 1.1 to 13.6). Mean age at admission as well as mean age of the first VTE episode were both significantly higher in patients free from the two mutations studied, as compared to carriers of the 20210 A allele (p = 0.04 and 0.01, respectively).
Our findings in a large series of patients (1) confirm the 20210 A allele prothrombin gene as a risk factor for VTE. (2) suggest that its association with the factor V Leiden is not uncommon.
凝血酶原基因3′-非翻译区的20210A等位基因变异最近被确定为深静脉血栓形成的一个危险因素。
评估未经选择的确诊静脉血栓栓塞症（VTE）患者中该变异的频率。
对1994年7月至1997年8月因临床怀疑VTE而转诊且诊断得到证实的所有连续患者，测定其凝血酶原变异的存在情况。对照组由骨髓志愿捐献者组成。
在纳入的366例患者中，17例（4.6%）为20210A等位基因携带者（95%可信区间，2.4%至6.7%）。该突变存在于400例对照者中的1.0%。存在20210A等位基因时发生VTE的优势比为4.8（95%可信区间，1.5至19.8）。46例（12.5%）患者有因子V基因的突变，5例（1.4%）患者两种突变均有。排除因子V突变携带者后，存在20210A等位基因时发生VTE的优势比为3.7（95%可信区间，1.1至13.6）。与20210A等位基因携带者相比，未发生所研究的两种突变的患者入院时的平均年龄以及首次VTE发作时的平均年龄均显著更高（分别为p = 0.04和0.01）。
我们在大量患者中的研究结果（1）证实凝血酶原基因20210A等位基因为VTE的一个危险因素。（2）提示其与因子V莱顿突变的关联并不罕见。
