亚甲基四氢叶酸还原酶基因C677T多态性及同型半胱氨酸与静脉血栓栓塞症的关联性

目的：探讨亚甲基四氢叶酸还原酶基因C677T（MTHFR C677T）基因多态性及同型半胱氨酸与静脉血栓栓塞症的关联及静脉血栓栓塞症的影响因素。方法：收集200例VTE患者和同期入院体检的200例健康志愿者进行病例对照研究。分析两组受试对象MTHFR基因C677T基因型和血浆同型半胱氨酸浓度，行统计学分析和影响因素分析。结果：VTE组TT基因型70例，NC组TT基因型32例，VTE组突变率显著高于NC组（58.5%vs.40.5%，P<0.05）。同型半胱氨酸测定结果显示，VTE组的同型半胱氨酸水平显著高于NC组（15.58±6.86 vs.13.14±4.53，P<0.05），亚组分析显示TT型人群的同型半胱氨酸水平显著高于其他型（P<0.05）。Logsitic回归分析显示，同型半胱氨酸（OR=1.074，95%CI=1.021~1.130）和MTHFR C677T位点突变（OR=2.660，95%CI=1.536~4.609）是VTE发生的独立危险因素。结论：MTHFR C677T位点突变和同型半胱氨酸水平升高是VTE发生的独立危险因素。MTHFR TT基因型个体同型半胱氨酸水平升高，患VTE风险显著升高。此外，吸烟、静脉曲张、血型、叶酸也与VTE疾病显著相关。

Association of MTHFR C677T gene polymorphism with homocysteine and venous thromboembolism

OBJECTIVE To investigate the association between MTHFRC677T gene polymorphism and homocysteine and venous thromboembolism and to explore the influencing factors of VTE.METHODS A case-control study was conducted in 200 patients with VTE and 200 healthy volunteers who were admitted to the hospital during the same period.The MTHFR C677T genotype and plasma homocysteine concentration in the two groups were analyzed.Statistical analysis and influencing factors analysis were performed.RESULTS There were 70 cases of TT genotype in VTE group and 32 cases of TT genotype in NC group.The mutation rate of VTE group was significantly higher than that of NC group (58.5% vs.40.5%,P<0.05).The homocysteine assay showed that the level of homocysteine in the VTE group was significantly higher than that in the NC group (15.58±6.86 vs.13.14±4.53,P<0.05).Subgroup analysis showed that homocysteine levels were significantly higher in the TT population than in the other groups (P<0.05).Logistic regression analysis showed that homocysteine (OR=1.074,95% CI=1.021-1.130) and MTHFR C677T mutation (OR=2.660,95% CI=1.536-4.609) were independent risk factors for VTE.CONCLUSION MTHFR C677T mutation and homocysteine are independent risk factors for VTE.The homocysteine level of TT genotype individuals is elevated with a significant higher risk of VTE.In addition,smoking,varicose veins,blood type,and folic acid are also significantly associated with VTE disease.