亚甲基四氢叶酸还原酶A1298C基因多态性检测在高同型半胱氨酸血症治疗中的价值

目的 探讨亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)A1298C基因多态性检测在高同型半胱氨酸血症(hyperhomocysteinemia,HHcy)治疗中的价值。 方法 依据MTHFR A1298C基因检测结果,将2017年2—9月在许昌市中心医院住院的合并HHcy的汉族缺血性脑卒中患者236例分为A(AA型)、B(AC型)、C(CC型)3组,分别有146例(61.86%)、68例(28.81%)和22例(9.32%)患者。3组均在缺血性脑卒中常规治疗基础上给予叶酸片降低Hcy治疗。记录患者应用叶酸治疗前、治疗后3个月、6个月血浆Hcy的变化,计算3组患者治疗6个月时血浆Hcy的下降幅度。 结果 A组患者服药后3、6个月血浆Hcy水平分别为(22.21±4.62)μmol/L和(13.63±4.15)μmol/L,显著低于服药前的(27.92±5.24)μmol/L;B、C 2组患者服药后6个月血浆Hcy水平分别为(18.58±5.43)μmol/L和(21.05±6.12)μmol/L,显著低于服药前的(29.13±6.82)μmol/L和(31.82±4.48)μmol/L;服药6个月时,A组患者血浆Hcy的下降幅度为(51.39±9.47)%,显著高于B组和C组的(37.42±11.46)%和(34.19±10.53)%。 结论 MTHFR A1298C基因多态性显著影响叶酸降低血浆Hcy的治疗效果,检测MTHFR A1298C基因多态性在Hcy治疗中具有一定的指导价值。 

The value of methylenetetrahydrofolate reductase A1298C gene polymorphism detection in the treatment of hyperhomocysteinemia

Objective To investigate the value of methylenetetrahydrofolate reductase A1298 C(MTHFR A1298 C) gene polymorphism in the treatment of hyperhomocysteinemia(Hcy). Methods According to the results of MTHFR A1298 C gene detection, 236 patients of Han people with ischemic stroke complicated with HHcy in Xuchang Central Hospital from February 2017 to September were divided into three groups: A(type AA gene), B(type AC gene) and C(type CC gene). There were 146 cases(61.86%), 68 cases(28.81%) and 22 cases(9.32%) in the group A, B and C respectively. The three groups were treated with folic acid tablets to reduce Hcy treatment on the basis of the routine treatment of ischemic stroke. The changes in plasma Hcy were recorded before and 3 months and 6 months after the treatment of folic acid. Results The plasma Hcy in 3 months and 6 months of the group A were(22.21±4.62) μmol/L and(13.63±4.15) μmol/L,which was significantly lower than that before taking medicine(27.92±5.24) μmol/L. The plasma Hcy in 6 months of the group B and C were(18.58±5.43) μmol/L and(21.05±6.12) μmol/L respectively, which was significantly lower than that before taking medicine(29.13±6.82) μmol/L and(31.82±4.48) μmol/L. After taking folic acid tablets for 6 months, the plasma Hcy decline rate in group A was(51.39±9.47)%, which was significantly higher than that in group B [(37.42±11.46)%] and C [(34.19±10.53)%]. Conclusion MTHFR A1298 C gene polymorphism significantly affects the therapeutic effect of folic acid on the reduction of plasma Hcy, and the detection of MTHFR A1298 C gene polymorphism is of certain guiding value in the treatment of hcy.