MTHFR C677T基因多态性与脑小血管病认知功能障碍的相关性研究 Correlation between MTHFR C677T Gene Polymorphism and Cognitive Impairment in Patients with Cerebral Small Vessel Disease

• Published in: Zhongguo cuzhong zazhi Vol. 14; no. 11; pp. 1095 - 1100
• Main Author: 汪明玉，张立辉，周浩，赵勇
• Format: Journal Article
• Language: Chinese
• Published: Editorial Department of Chinese Journal of Stroke 01.11.2019
• Subjects: 10-methylenetetrahydrofolate reductase;homocysteine; 10-亚甲基四氢叶酸还原酶; 5; cerebral small vessel disease; cognitive function; 同型半胱氨酸; 脑小血管病; 认知功能
• ISSN: 1673-5765
• DOI: 10.3969/j.issn.1673-5765.2019.11.004

目的 探讨MTHFR C677T基因多态性与脑小血管病（cerebral small vessel disease，CSVD）患者认知功 能障碍的相关性。 方法 选取2017年12月-2019年3月在潍坊市人民医院神经内科就诊的门诊及住院CSVD患者，参照 蒙特利尔认知评估量表（Montreal cognitive assessment，MoCA）和临床痴呆评定量表评分，将患者分为 3组：认知功能正常组，轻度认识功能障碍组和痴呆组。所有患者均取晨起空腹静脉血测定Hcy水平 及MTHFR C677T基因型，分析Hcy水平、MTHFR C677T基因型与CVSD患者认知功能障碍的相关性。 结果 共纳入130例CSVD患者，其中男性87例（66.9%）。认知功能正常组63例，轻度认识功能障碍 组35例，痴呆组32例。痴呆组患者血清Hcy水平高于轻度认知功能障碍组（P＜0.001）和认知功能正 常组（P＜0.001），轻度认知功能障碍组血清Hcy水平高于认知功能正常组（P＜0.001）。Hcy水平与 CSVD患者认知功能下降程度正相关（r =0.626，P＜0.001）。MTHFR 677 C→T基因突变与CSVD患者 认知功能下降程度正相关（r =0.359，P =0.001）。T等位基因频率与CSVD患者认知功能障碍弱正相关 （r =0.273，P＜0.001）。 结论 MTHFR 677 C→T基因突变与CSVD患者认知功能障碍的发生及进展正相关，可作为早期预测 认知功能障碍的血清学标志物之一。 Abstract: Objective To investigate the correlation between MTHFR C677T gene polymorphism and cognitive impairment in patients with cerebral small vessel disease (CSVD). Methods This was a retrospective study which included the CSVD outpatients and inpatients in Department of Neurology,Weifang People's Hospital between December 2017 to March 2019. Based on the Mont