2021 年第 7 期 第 16 卷

亚甲基四氢叶酸还原酶基因多态性对不同剂量叶酸治疗高同型半胱氨酸血症效果的影响

Effect of methylenetetrahydrofolate reductase gene polymorphism on the efficacy of different doses of folic acid on the treatment of hyperhomocysteinemia

作者：秦燕李艳萌律洁田玉峰

英文作者：Qin Yan Li Yanmeng Lyu Jie Tian Yufeng

单位：山东省日照市人民医院检验科276826

英文单位：Department of Laboratory Medicine People′s Hospital of Rizhao Shandong Province Rizhao 276826 China

关键词：亚甲基四氢叶酸还原酶基因多态性；高同型半胱氨酸血症；叶酸

英文关键词：Methylenetetrahydrofolatereductasegenepolymorphism;Hyperhomocysteinaemia;Folicacid

• 摘要：

• 目的 评价亚甲基四氢叶酸还原酶（MTHFR）基因多态性对不同剂量叶酸治疗高同型半胱氨酸血症（HHcy）效果的影响。方法 选择2019年1—11月于山东省日照市人民医院体检部体检的年龄大于60岁伴HHcy的患者319例为研究对象，进行MTHFR C677T基因检测。按照MTHFR基因型分为CC组、CT组、TT组，每组患者完全随机分为3个亚组，分别给予低剂量（0.4 mg/d）、中剂量（0.8 mg/d）及高剂量（1.2 mg/d）叶酸治疗。治疗6周后复查血同型半胱氨酸（Hcy）水平，比较各组患者Hcy水平变化情况。结果 CC组患者口服3种剂量叶酸治疗后Hcy水平及下降幅度差异均有统计学意义(均P<0.001)。CT组、TT组患者口服3种剂量叶酸治疗后，Hcy水平差异均无统计学意义（均P>0.05），下降幅度差异均有统计学意义(均P<0.05)。TT组患者各剂量叶酸亚组Hcy水平下降幅度均大于CC组和CT组［低剂量叶酸亚组：（51.1±3.2）%比（19.0±1.0）%、（21.0±1.8）%，中剂量叶酸亚组：（55.1±3.2）%比（24.5±1.9）%、（22.5±1.8）%；高剂量叶酸亚组：（58.5±3.1）%比（22.5±1.5）%、（20.6±1.5）%］，差异均有统计学意义（均P<0.05）；CT组和CC组中应用中剂量叶酸亚组下降幅度最大，与其他剂量亚组差异均有统计学意义（均P<0.05）。结论 对于MTHFR 677TT型的HHcy患者，低剂量（0.4 mg/d）叶酸即可有效降低Hcy水平。对于MTHFR 677CT/CC型的HHcy患者，则应用中剂量（0.8 mg/d）叶酸可降低Hcy水平且下降幅度最大。

• Objective To evaluate the effect of methylenetetrahydrofolate reductase(MTHFR) gene polymorphism on the efficacy of different doses of folic acid on the treatment of hyperhomocysteinemia(HHcy). Methods Totally 319 patients with HHcy who were over 60 years old and examined by Department of Medical Examination, People′s Hospital of Rizhao, Shandong Province from January to November 2019 were selected as the research subjects for MTHFR C677T gene testing. According to the MTHFR genotype, they were divided into CC group, CT group and TT group. Patients in each group were randomly divided into three subgroups and given low-dose(0.4 mg/d), medium-dose(0.8 mg/d) and high-dose(1.2 mg/d) folic acid, respectively. After 6 weeks of treatment, the blood homocysteine(Hcy) level was rechecked, and the changes in the Hcy level of the patients in each group were compared. Results There were statistically significant differences in Hcy level and decrease range among the three doses of folic acid orally in CC group(all P<0.001). After three doses of folate acid treatment, Hcy levels in different three doses of folic acid orally in CT group and TT group had no significant differences(all P>0.05), but the differences in decrease range were statistically significant(all P<0.05). The decrease range of Hcy level in each dose subgroup of TT group was more than that in each dose subgroup of CC group and CT group［low-dose subgroup:（51.1±3.2）% vs （19.0±1.0）%, （21.0±1.8）%; medium-dose subgroup:（55.1±3.2）% vs （24.5±1.9）%, （22.5±1.8）%; high-dose subgroup:（58.5±3.1）% vs （22.5±1.5）%, （20.6±1.5）%］(all P<0.05). In CT group and CC group, the decrease range of medium-dose folic acid subgroup was the most, and the differences were statistically compared with other dose subgroups(all P<0.05). Conclusions For HHcy patients with MTHFR 677TT type, low-dose(0.4 mg/d) of folic acid can effectively reduce Hcy levels. For HHcy patients with MTHFR 677CT/CC type, medium-dose(0.8 mg/d) of folic acid can reduce Hcy levels, and decrease range is the most.