亚甲基四氢叶酸还原酶C677T多态性与急性脑梗死5年复发风险的回顾性队列研究  

A retrospective cohort study of methylene tetrahydrofolate reductase C677T polymorphism and 5-year recurrence risk of acute cerebral infarction

作　　者：梁晓倩 孙迎迎 杨朝阳 程言博 LIANG Xiaoqian;SUN Yingying;YANG Zhaoyang;CHENG Yanbo(The First Clinical College of Xuzhou Medical University,Xuzhou 221000,China;The Affiliated Hospital of Xuzhou Medical University,Xuzhou 221002,China)

机构地区：[1]徐州医科大学第一临床医学院,江苏徐州221000 [2]徐州医科大学附属医院,江苏徐州221002

出　　处：《中国实用神经疾病杂志》2024年第12期1517-1521,共5页Chinese Journal of Practical Nervous Diseases

基　　金：中国脑卒中高危人群干预适宜技术研究及推广项目(编号:2018R009)。

摘　　要：目的探究亚甲基四氢叶酸还原酶(MTHFR)C677T多态性与急性脑梗死(AIS)5年复发风险的关系。方法采用回顾性队列研究方法,选取2015-01—2017-12徐州医科大学附属医院收治的582例AIS患者,对患者进行为期5 a的随访,根据是否复发分为复发组(153例)和未复发组(429例),比较2组患者MTHFR基因型分布,分析MTHFR基因型与AIS复发的关系。结果单因素分析显示,复发组患者年龄、糖尿病、心房颤动、入院NIHSS评分、D-二聚体(D-D)、Hcy等与未复发组患者比较差异有统计学意义(P<0.05)。C677T基因型在复发组及未复发组中的分布均符合Hardy-Weinberg平衡定律,具有群体代表性(t=0.552,P=0.834)。复发组与未复发组的C677T基因型及等位基因频率比较均有统计学差异(χ^(2)=13.694、14.890,P=0.001、<0.001)。经过5 a随访,复发组中TT基因型占比最高,为43.79%。Cox回归分析显示,年龄、糖尿病、心房颤动、入院NIHSS评分、D-D、Hcy、C677T位点均是影响AIS患者复发的危险因素(P<0.05)。采用Kaplan-Meier生存曲线分析MTHFR C677T位点多态性与AIS患者复发的相关性,结果显示MTHFR C677T位点多态性与AIS患者的复发相关,TT基因型的AIS患者具有更差的生存率(P<0.05)。结论MTHFR C677T位点多态性与AIS患者复发有关,TT基因型患者有更高的5年复发率及更低的5年生存率。Objective To investigate the relationship between methylene tetrahydrofolate reductase(MTHFR)C677T polymorphism and 5-year recurrence risk of acute cerebral infarction(AIS).Methods A retrospective cohort study was used and 582 patients with AIS from January 2015 to December 2017 in the Affiliated Hospital of Xuzhou Medical University were selected.Patients were followed up for 5 years and were divided into the relapse group(153 cases)and the non-recurrence group(429 cases).The MTHFR genotype distribution was compared between the two groups,and the relationship between MTHFR genotype and AIS recurrence was analyzed.Results Univariate analysis showed that age,diabetes,atrial fibrillation,admission NIHSS score,D-D,Hcy and so on in the relapse group were significantly different from those in the non-recurrence group(P<0.05).The distributions of C677T genotypes in both the relapsed group and non-relapsed group were consistent with Hardy-Weinberg equilibrium law,indicating population representation(t=0.552,P=0.834).There were significant differences in C677T genotype and allele frequency between the relapsed group and the non-relapsed group(χ^(2)=13.694,14.890,P=0.001,<0.001).After 5 years of follow-up,TT genotype accounted for the highest proportion in the relapse group(43.79%).Cox regression analysis showed that age,diabetes,atrial fibrillation,NIHSS score on admission,D-D,Hcy,and C677T site were all risk factors for recurrence in AIS patients(P<0.05).Kaplan-Meier survival curve was used to analyze the correlation between MTHFR C677T polymorphism and recurrence in AIS patients.The results showed that MTHFR C677T polymorphism was associated with recurrence in AIS patients,and TT genotype AIS patients had worse survival rate(P<0.05).Conclusion MTHFR C677T polymorphisms are associated with recurrence in AIS patients,TT genotype patients have higher 5-year recurrence rate and lower 5-year survival rate.

关 键 词：急性脑梗死 亚甲基四氢叶酸还原酶 基因多态性 C677T位点 5年复发率 5年生存率 危险因素 

分 类 号：R743.33[医药卫生—神经病学与精神病学]