Margaglione M, D'Andrea G, d'Addedda M, Giuliani N, Cappucci G, Iannaccone L, Vecchione G, Grandone E, Brancaccio V, Di Minno G
Unità di Aterosclerosi e Trombosi, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Ospedale A. Cardarelli, Napoli, Italy.
Thromb Haemost. 1998 May;79(5):907-11.
A polymorphism, C-->T677, in the methylenetetrahydrofolate reductase (MTHFR) gene has been identified as a cause of mild hyperhomocysteinemia, a risk factor for venous thrombosis. We have investigated the frequency of the TT genotype in 277 consecutive patients with confirmed deep venous thrombosis and 431 healthy subjects. The TT MTHFR genotype was more frequent in patients than in controls (25.6% vs. 18.1%; p = 0.016). The risk of thrombosis among carriers of this genotype was significantly increased [odds ratio: 1.6 (95% CI: 1.1-2.3)]. The estimated risk associated with the TT genotype was 2.0 (95% CI: 1.3-3.1) in subjects with (n = 122), and 1.3 (95% CI: 0.8-2.0) in those without (n = 155) predisposing (hereditary, acquired or circumstantial) risk factors for venous thrombosis. Factor V Leiden and prothrombin G-->A20210 are known risk factors for venous thrombosis. After stratification for FV Leiden and prothrombin A20210 mutations, a significant association was also observed. After adjustment for sex, FV Leiden and prothrombin A20210 mutation, the estimated risk of venous thrombosis among carriers of the TT MTHFR genotype was 1.7 (95% CI: 1.2-2.6). The TT MTHFR genotype is independently associated with venous thrombosis, mainly among individuals with a high risk profile.
亚甲基四氢叶酸还原酶（MTHFR）基因中的一种多态性，即C→T677，已被确定为轻度高同型半胱氨酸血症的一个病因，而轻度高同型半胱氨酸血症是静脉血栓形成的一个危险因素。我们调查了277例确诊为深静脉血栓形成的连续患者以及431名健康受试者中TT基因型的频率。TT MTHFR基因型在患者中比在对照组中更常见（25.6%对18.1%；p = 0.016）。该基因型携带者发生血栓形成的风险显著增加[比值比：1.6（95%可信区间：1.1 - 2.3）]。在有（n = 122）静脉血栓形成的易患（遗传性、获得性或环境性）危险因素的受试者中，与TT基因型相关的估计风险为2.0（95%可信区间：1.3 - 3.1），而在无此类危险因素的受试者（n = 155）中为1.3（95%可信区间：0.8 - 2.0）。因子V莱顿突变和凝血酶原G→A20210是已知的静脉血栓形成危险因素。在对因子V莱顿突变和凝血酶原A20210突变进行分层后，也观察到了显著关联。在对性别、因子V莱顿突变和凝血酶原A20210突变进行校正后，TT MTHFR基因型携带者发生静脉血栓形成的估计风险为1.7（95%可信区间：1.2 - 2.6）。TT MTHFR基因型与静脉血栓形成独立相关，主要见于具有高危特征的个体。
