亚甲基四氢叶酸还原酶基因的二次突变与静脉血栓形成疾病风险

A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease.

作者信息

Franco R F, Morelli V, Lourenço D, Maffei F H, Tavella M H, Piccinato C E, Thomazini I A, Zago M A

机构信息

Department of Clinical Medicine, School of Medicine of Ribeirão Preto, 14048900 Ribeirão Preto-SP, Brazil.

出版信息

Br J Haematol. 1999 May;105(2):556-9.

PMID:10233437

Abstract

We assessed the effect of a recently described mutation in the MTHFR gene (1298 A --> C) on the risk of deep venous thrombosis (DVT) by determining its prevalence in 190 patients with verified DVT and in age-, race- and gender-matched controls. MTHFR 1298 A --> C was found in 42.1% of patients and in 41.1% of controls. The OR for venous thrombosis was 1.07 (95% CI 0.70-1.65) for heterozygotes and 0.83 (95% CI 0.33-2.08) for homozygotes. The OR for the factor V Leiden (FVL) mutation was 3.40 (95% CI 1.22-9.48), for FII 20210 G --> A was 5.22 (95% CI 1.12-24.2) and for MTHFR 677 C --> T, 1.24 (95% CI 0.82-1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A --> C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G --> A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C --> T (OR 1.44, 95% CI 0.71-2.92). These data do not support a critical role of MTHFR 1298 A --> C in the predisposition to DVT.

摘要

我们通过测定190例确诊为深静脉血栓形成（DVT）的患者以及年龄、种族和性别匹配的对照组中该突变的发生率，评估了近期描述的亚甲基四氢叶酸还原酶（MTHFR）基因中的一种突变（1298 A→C）对深静脉血栓形成风险的影响。在42.1%的患者和41.1%的对照组中发现了MTHFR 1298 A→C。杂合子静脉血栓形成的比值比（OR）为1.07（95%可信区间[CI] 0.70 - 1.65），纯合子为0.83（95% CI 0.33 - 2.08）。因子V莱顿（FVL）突变的OR为3.40（95% CI 1.22 - 9.48），凝血因子II 20210 G→A的OR为5.22（95% CI 1.12 - 24.2），MTHFR 677 C→T的OR为1.24（95% CI 0.82 - 1.87）。当MTHFR 1298 A→C与FVL（OR 2.85，95% CI 0.88 - 9.23）、凝血因子II 20210 G→A（OR 7.19，95% CI 0.87 - 59.4）或MTHFR 677 C→T（OR 1.44，95% CI 0.71 - 2.92）共同遗传时，未发现静脉血栓形成风险显著增加。这些数据不支持MTHFR 1298 A→C在DVT易感性中起关键作用。