遗忘性轻度认知功能障碍与MTHFR C677T基因多态性及血浆同型半胱氨酸水平研究  

Relationship between amnesic mild cognitive impairment,MTHFR C677T gene polymorphism and plasma homocysteine level

作　　者：邢红宇[1] 卢瑞丽[2] 梁宁 周君霞[4] XING Hongyu;LU Ruili;LIANG Ning;ZHOU Junxia(Clinical Laboratory,Chinese Medicine Hospital of Hainan Province,Haikou,Hainan,China,570203;Acupuncture and Rehabilitation Department,Chinese Medicine Hospital of Hainan Province,Haikou, Hainan,China,570203;Haikou Emergency Medical Center,Haikou,Hainan, China,570311;Central Laboratory,Affiliated Haikou Hospital of Xiangya Medical College,Central South University,Haikou, Hainan,China,570208)

机构地区：[1]海南省中医院检验科,海南海口570203 [2]海南省中医院针灸康复科,海南海口570203 [3]海口市120急救中心,海南海口570311 [4]中南大学湘雅医学院附属海口医院中心实验室,海南海口570208

出　　处：《分子诊断与治疗杂志》2019年第1期22-27,共6页Journal of Molecular Diagnostics and Therapy

摘　　要：目的探讨MTHFR C677T基因多态性及血浆同型半胱氨酸(homocysteine,Hcy)水平与遗忘型MCI(amnestic MCI,a MCI)的关系。方法选入50例a MCI患者(a MCI组)和60例健康老年人(对照组)为研究对象,记录并比较2组年龄、性别、高血压、糖尿病、吸烟、嗜酒。测定并比较2组胆固醇(total cholesterol,TC)、甘油三酯(triglyceride,TG)、低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)、高密度脂蛋白胆固醇(high density lipoprotein cholesterol,HDL-C)、尿酸(uric acid,UA)、血浆Hcy浓度及MTHFR C677T基因多态性分布。采用蒙特利尔认知评估量表(montreal cognitive assessment,MoCA)评价aMCI患者认知功能与MTHFR C677T基因多态性和血浆Hcy水平的关系。采用Logistic回归分析a MCI发生的独立危险因素。结果 2组研究对象在年龄、性别构成、受教育年限、高血压、糖尿病、高血脂、吸烟和饮酒等一般资料方面比较差异无统计学意义(P>0.05)。2组研究对象的TG、HDL-C水平比较,差异无统计学意义(P>0.05);2组在TC、LDL-C、UA、Hcy水平及MTHFR C677T基因型分布和等位基因频率比较,差异具有统计学意义(P<0.05)。a MCI组TC、Hcy水平显著高于对照组(P<0.05)。与对照组比较,a MCI组TT基因型增高,CC基因型降低,T等位基因频率增高,C等位基因降低,差异有统计学意义(P<0.05)。不同MTHFR C677T基因型a MCI组Hcy水平显著高于对照组,差异均具有统计学意义(P<0.05)。2组TT基因型血浆Hcy水平均显著高于CC基因型(P<0.05)。CC、CT和TT基因型aMCI患者对应的平均MoCA评分分别为(24.37±1.21)分、(23.26±1.02)分和(22.14±0.96)分,差异具有统计学意义(P<0.05),两两比较差异也具有统计学意义(P<0.05)。多元Logistic回归分析显示,UA与a MCI存在负相关关系,TC、Hcy和MTHFR C677T基因型与aMCI存在正相关关系。结论 MTHFR C677T基因突变致血浆Hcy浓度升高可能是aMCI发病及不断进展的重要危险因素。Objective To investigate the relationship between MTHFR C677T gene polymorphism and plasma homocysteine (Hcy) level in amnesia mild cognitive impairment (aMCI). Methods 50 patients with aMCI(aMCI group),and 60 healthy elderly(control group)were enrolled in this study. The age,gender,hypertension,diabetes,smoking and alcohol addiction were recorded and compared between the-groups. Cholesterol(TC),triglyceride(TG),low density lipoprotein cholesterol(LDL-C),high density lipoprotein cholesterol (HDL-C),uric acid (UA),plasma Hcy concentration and MTHFR gene C677T polymorphism were measured and compared. The relationship between cognitive function and MTHFR C677T gene polymorphism or plasma Hcy level in aMCI patients was evaluated using the montreal cognitive assessment (MoCA). Logistic regression was used to analyze the independent risk factors for aMCI. Results There was no significant difference in age,gender composition,years of education,hypertension, diabetes,hyperlipidemia,smoking and drinking between the-groups(P>0.05)and in the levels of TG and HDL-C between the-groups(P>0.05). The TC,LDL-C,UA,Hcy levels and MTHFR C677T genotype distribution and allele frequencies were compared between the-groups. The difference was statistically significant(P<0.05). The levels of TC and Hcy in aMCI group were significantly higher than those in control group(P<0.05). Compared with the control group,TT genotype increased,CC genotype decreased,T allele frequency increased,and-allele decreased in aMCI group,the difference was statistically significant(P< 0.05). The Hcy level of aMCI group with different MTHFR C677T genotype was significantly higher than that of control group(P<0.05). The plasma Hcy level of TT genotype was significantly higher than that of CC genotype(P<0.05). The average MoCA scores of CC,CT and TT genotype of aMCI patients were(24.37± 1.21),(23.26±1.02)and(22.14±0.96),respectively. The difference was statistically significant between the-groups(P<0.05). Multivariate logistic regression analysis showed that U

关 键 词：遗忘性轻度认知功能障碍 亚甲基四氢叶酸还原酶 基因多态性 同型半胱氨酸 

分 类 号：R749.1[医药卫生—神经病学与精神病学]