MTHFR基因多态性与血管性痴呆血浆Hcy水平及痴呆程度的相关性  

Correlation of MTHFR gene polymorphism with plasma Hcy level and dementia severity in patients with vascular dementia

作　　者：陈世保 牛姜水[2] 张亮 马晓蕾 李莉[1] 关玉华[1] CHEN Shi-bao;NIU Jiang-shui;ZHANG Liang(Department of Neurology,Xinjiang Bayingoleng Mongol Autonomous Prefecture People’s Hospital,Korla 841000,China)

机构地区：[1]新疆巴音郭楞蒙古自治州人民医院神经内科,841000 [2]新疆巴音郭楞蒙古自治州人民医院医务科,841000

出　　处：《中国实用医药》2021年第28期63-66,共4页China Practical Medicine

基　　金：新疆维吾尔自治区卫生健康青年医学科技人才专项(项目编号:WJWY-201955),项目名称:《亚甲基四氢叶酸还原酶C677T基因多态性与不同类型血管性痴呆的相关性研究及长期随访》。

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与血管性痴呆(VD)患者血浆同型半胱氨酸(Hcy)水平及痴呆严重程度的相关性。方法选取90例VD患者作为VD组,VD组患者根据痴呆严重程度分为轻度组(MMSE评分≥21分,7例)、中度组(MMSE评分10~20分,61例)、重度组(MMSE评分≤9分,22例);另选同期健康体检者90例作为对照组。所有研究对象均使用聚合酶链式反应-限制性片段长度多态性获得MTHFR C677T基因分型,应用同型比色法测定Hcy水平。比较不同痴呆程度VD患者和对照组MTHFR C677T基因型、等位基因分布以及血浆Hcy水平,VD组MTFHR C677T不同基因型患者的血浆Hcy水平;并分析VD组血浆Hcy水平与MMSE评分的相关性。结果对照组包括46例CC型、32例CT型和12例TT型,轻度组包括3例CC型、3例CT型和1例TT型,中度组包括20例CC型、29例CT型和12例TT型,重度组包括2例CC型、13例CT型和7例TT型。重度组中突变基因型CT和TT频率均高于对照组,野生型CC频率低于对照组,差异具有统计学意义(P<0.05)。重度组的突变等位基因T频率61.36%明显高于对照组的31.11%和中度组的43.44%,差异具有统计学意义(P<0.05)。重度组、中度组、轻度组、对照组的Hcy水平呈递减趋势,且组间两两比较差异均具有统计学意义(P<0.05)。VD组中,携带CT基因型患者的血浆Hcy(25.27±5.78)μmol/L高于携带CC基因型患者的(18.95±3.56)μmol/L,携带TT基因型患者的血浆Hcy(35.41±7.12)μmol/L高于携带CC和CT基因型患者,差异具有统计学意义(P<0.05)。Pearson相关性分析显示,VD组MTFHR C677T基因型突变程度与血浆Hcy水平呈正相关(r=0.295,P=0.005<0.05)。Pearson相关性分析显示,VD组患者的血浆Hcy水平与MMSE评分呈负相关(r=-0.2839,P=0.007<0.05)。结论MTHFR C677T发生突变的基因型TT与VD患者的血浆Hcy水平及痴呆发病程度呈正相关,通过分析该突变基因型有助于预测评判早期VD的发生发展。Objective To discuss the correlation of methylenetetrahydrofolate reductase(MTHFR)gene polymorphism with plasma homocysteine(Hcy)level and dementia severity in patients with vascular dementia(VD).Methods 90 patients with VD were selected as the VD group.According to the severity of dementia,patients in the VD group were divided into mild group(MMSE score≥21 points,7 cases),moderate group(MMSE score 10-20 points,61 cases),and severe group(MMSE score≤9 points,22 cases);another 90 cases of healthy subjects during the same period were selected as the control group.All subjects used polymerase chain reaction-restriction fragment length polymorphism to obtain MTHFR C677T genotyping,and homotypic colorimetry was used to determine Hcy levels.The MTHFR C677T genotype,allele distribution and plasma Hcy levels in VD patients with different severity of dementia and control group,and the plasma Hcy levels in patients with different genotypes of MTFHR C677T in the VD group were compared.The correlation between plasma Hcy levels and MMSE scores in the VD group was analyzed.Results The control group included 46 cases of CC type,32 cases of CT type and 12 cases of TT type;the mild group included 3 cases of CC type,3 cases of CT type and 1 case of TT type;the moderate group included 20 cases of CC type,29 cases of CT type and 12 cases of TT type;the severe group included 2 cases of CC type,13 cases of CT type and 7 cases of TT type.The frequencies of CT and TT of mutant genotypes in the severe group were higher than those in the control group,and the frequencies of wild-type CC were lower than those in the control group.All the differences were statistically significant(P<0.05).The frequencies of T of mutant genotypes 61.36%in the severe group was significantly higher than 31.11%in the control group and 43.44%in the moderate group,and the differences were statistically significant(P<0.05).The Hcy levels in the severe,moderate,mild,and control groups showed a decreasing trend,and the differences between every two groups were st

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 血管性痴呆 血浆同型半胱氨酸 

分 类 号：R749.1[医药卫生—神经病学与精神病学]