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    MTHFR基因多态性与急性冠状动脉综合征发生及PCI术后近期预后的相关性

    Study on the correlation of MTHFR gene polymorphism with acute coronary syndrome and short-term prognosis after PCI

      摘要
    • 摘要: 目的： 分析急性冠状动脉综合征(ACS)病人亚甲基四氢叶酸还原酶(MTHFR)基因突变情况，并探讨MTHFR突变与病人经皮冠状动脉介入术(PCI)后近期预后的关系。方法： 选择ACS病人121例(ACS组)，同期健康体检者117名作为对照组，比较2组性别、年龄、高血压、糖尿病、吸烟情况和叶酸(FA)、同型半胱氨酸(HCY)、一氧化氮(NO)水平及低密度脂蛋白胆固醇、总胆固醇、三酰甘油、Gensini评分、病变支数等指标，通过微测序技术分别检测2组MTHFR基因c.677、c.1298位点的单核苷酸多态性分型。根据术后90 d是否发生不良心脑血管事件将ACS组病人分为预后良好组和预后不良组，比较2组MTHFR基因c.677位点多态性情况，分析影响ACS病人预后不良的危险因素。结果： ACS组高血压、糖尿病、吸烟比例均明显高于对照组(P<0.01)，2组c.677位点基因型和等位基因差异均有统计学意义(P<0.01)。CT+TT分型ACS病人NO、Gensini评分、HCY水平均明显高于CC分型病人(P<0.01)，FA水平明显低于CC分型病人(P<0.01)。ACS病人预后不良发生比例为23.96%(29/121)，与预后良好组相比，预后不良组CT+TT分型比例升高(P<0.01)。logistic回归分析显示，CT+TT分型、高Gensini评分和高水平HCY均为ACS病人预后不良的独立危险因素(P<0.01)。结论： MTHFR基因c.667位点C/T突变与ACS发生及PCI术后不良心脑血管事件发生密切相关。

       

      Abstract: Objective: To analyze the mutation of methylenetetrahydrofolate reductase(MTHFR) gene in patients with acute coronary syndrome(ACS),and explore the relationship between MTHFR mutation and short-term prognosis after percutaneous coronary intervention(PCI). Methods: A total of 121 ACS patients were selected as the ACS group,and 117 healthy people were selected as the control group.The sex,age,hypertension,diabetes,smoking,levels of folic acid(FA),homocysteine(HCY) and nitric oxide(NO),and blood lipid indicatorslow-density lipoprotein cholesterol(LDL-C),total cholesterol(TC) and triglyceride(TG),Gensini score and number of disease branches were compared between two groups.The single nucleotide polymorphisms at c.677 and c.1298 of MTHFR gene in two groups were detected by microsequencing.According to the occurrence of unscrupulous cerebrovascular events after 90 days of surgery,the ACS patients were divided into the good prognosis group and poor prognosis group,and the polymorphism of MTHFR gene c.677 locus between two groups was compared to analyze the risk factors affecting the poor prognosis of ACS patients. Results: Compared with the control group,the proportions of hypertension,diabetes and smoking in ACS group increased(P<0.01),and the differences of the genotypes and alleles of c.677 locus were statistically significant between two groups(P<0.01).The NO,Gensini scores and HCY levels in ACS patients with CT+TT classification were significantly higher than those in CC classification(P<0.01),and the FA levels were significantly lower than those in CC classification(P<0.01).The proportion of patients with poor prognosis was 23.96%(29/121),and the proportion of CT+TT typing in patients with poor prognosis was higher than that in patients with good prognosis(P<0.01).The results of logistic regression analysis showed that the CT+TT classification,high Gensini score and high HCY were the independent risk factors of poor prognosis in ACS patients(P<0.01). Conclusions: The C/T mutation at c.667 site of MTHFR gene is closely related to the occurrence of ACS and MACCE after PCI.

       

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