亚甲基四氢叶酸还原酶C677T基因突变的脑梗死患者轻度血管性认知功能障碍发病情况研究  

The clinical effects of methylenetetrahydrofolate reductase C677T gene mutation on mild vascular cognitive impairment in patients with cerebral infarction

作　　者：路蔚[1] 陈金来[2] 刘怀翔[1] 

机构地区：[1]天津医科大学第二医院神经内科,300211 [2]天津医科大学第二医院检验科,300211

出　　处：《中华老年医学杂志》2017年第6期608-612,共5页Chinese Journal of Geriatrics

基　　金：天津市卫计委科技基金（2015KZ095）

摘　　要：目的研究同型半胱氨酸（Hcy）代谢亚甲基氢叶酸还原酶（MTHFR）C677T基因突变在急性脑梗死后轻度血管性认知功能障碍（VCI）患者发病中的作用。方法前瞻性研究，连续入选2015年6月至2016年5月住院的动脉硬化性急性脑梗死患者180例（急性发病3d内），根据空腹Hcy水平，分为Hcy正常组（Hcy：5，46～16．20μmol／L）130例和高Hcy组（Hcy〉16．20μmol／L）50例。采用聚合酶链反应 限制性内切酶片段长度多态性检测MTHFRC677T基因型；对急性脑梗死患者在入院、14d、30d和90d时采用蒙特利尔认知评估量表（MoCA）和简易精神状态量表（MMSE）评分，分析不同基因型患者VCI发病情况和急性脑梗死后VCI的危险因素。结果高Hcy组发病14d、30d和90d时MMSE和MocA评分分别低于Hcy正常组（均P〈0．05或P〈0．01）；各基因型比较，入院14d时T／T型患者（28例）MMSE和MoCA评分低于C／C型（80例），差异有统计学意义（P〈0．05），随访30d和90d时，T／T型患者MMSE和MoCA评分低于C／T（72例）和C／C型（P〈0．05或P〈0．01），C／T型患者低于C／C型患者（P〈0．05或P〈0．01）。Logistic回归分析结果显示，Hcy是轻度VCI的独立危险因素（OR=1．274，95％CI：1．027-1．264，P=0．018）。结论MTHFRC677T基因突变可能引起高Hcy血症，间接促进了脑梗死患者VCI事件的发生，可能是VCI的遗传易感基因。Objective To study the clinical effects of methylenetetrahydrofolate reductase（MTHFR） C677T gene mutation on mild vascular cognitive impairment（VCI）in patients with cerebral infarction. Methods The prospective study was conducted in 180 patients with atherosclerotic acute cerebral infarction hospitalized from June 2015 to May 2016. 180 patients were divided into normal homocysteine（Hey）group （Hcy 5.46-16.20mol / L,n=130）and high Hcy group（ Hcy〉16. 20 mol / L,n=50）. MTHFR C677T genotypes were detected by polymerase chain reaction-restriction endonuclease fragment length polymorphism. The VCI state and risk factors for VCI were analyzed with Montreal Cognitive Assessment scale（MoCA） and Mini Mental State Examination（ MMSE） score in patients with acute cerebral infarction on admission and 14 days, 30 days and 90 days after admission. Results MMSE and MoCA scores at 14 days, 30 days, 90 days after admission were lower in high Hcy group than in normal Hcy group（P〈0.05 or P〈0. 01）. MMSE and MoCA scores were lower in T/T genotype than in C/C genotype（P〈0. 05）at 14 day after admission, and lower in C/T genotype than in C/C genotype at 30 day and 90 day follow-up（P〈0. 05 or P〈0.01）. Logistic regression analysis showed that Hcy may be independent risk factors for mild VCI（OR =1. 274, 95%CI： 1. 027-1. 264,P=0. 018）. Conclusions MTHFR C677T gene mutations may cause hyper-homocysteinemia, and promote the emergence of VCI in patients with cerebral infarction. MTHFR C677T gene mutations may be a genetic susceptibility factor for VCI.

关 键 词：脑梗塞 亚甲基四氢叶酸还原酶 认知障碍 

分 类 号：R743.3[医药卫生—神经病学与精神病学]