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

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(P0.001)和认知功能正常组(P0.001),轻度认知功能障碍组血清Hcy水平高于认知功能正常组(P0.001)。Hcy水平与CSVD患者认知功能下降程度正相关(r=0.626,P0.001)。MTHFR677C→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,P0.001)。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。

Correlation between MTHFR C677T Gene Polymorphism and Cognitive Impairment in Patients with Cerebral Small Vessel Disease

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 Montreal cognitive assessment (MoCA) and clinical dementia rating (CDR) score,
the patients were divided into three groups: normal cognition group, mild cognitive impairment
group and dementia group. The level of homocysteine (Hcy), and MTHFR C677T phenotype were
measured. The relationship between cognitive function and Hcy or MTHFR C677T phenotype were
analyzed by comparing the above data among three groups.
Results A total of 130 CSVD patients were enrolled into this study, including 87 males (66.9%), and
with 63 patients in normal cognition group, 35 patients in mild cognitive impairment group and 32
patients in dementia group. The Hcy level in dementia group was significantly higher than that in mild
cognitive impairment group (P <0.001) and normal cognition group (P <0.001). The Hcy level in mild
cognitive impairment group was significantly higher than that in normal cognition group (P <0.001).The level of Hcy was positively correlated with cognitive decline (r =0.626, P <0.001). The frequency
of C677T MTHFR mutation (C→T) genotype was positively correlated with cognitive decline
(r =0.359, P =0.001). The frequency of T allele was positively correlated with cognitive decline (r =0.273,
P <0.001).
Conclusions MTHFR 677 C→T gene mutation was associated with cognitive decline, and it can
be used as an early serum predictor for cognitive impairment in CSVD.