MTHFR C677T/MS A2756G基因多态性及血浆Hcy水平与阿尔茨海默病的关系

Association between methylenetetrahydrofolate reductase C677T/methionine synthase A2756G gene polymorphisms,Hcy plasma levels and Alzheimer’s disease

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)C677T、蛋氨酸合成酶(MS)A2756G基因多态性及血浆同型半胱氨酸(Hcy)水平与阿尔茨海默病(AD)的关系。方法:用多聚酶链反应技术分析75例AD患者(AD组)及71例健康老人(对照组)的MTHFR C677T、MS A2756G基因多态性及测定血浆Hcy、叶酸和VitB12水平。结果:(1)两组MTHFR C677T、MS A2756G的基因型频率及等位基因频率分布差异无统计学意义(P>0.05);(2)对照组携带MTHFRT等位基因者血浆Hcy水平升高(P<0.05);两组血浆Hcy水平与MS基因A2756G基因型不相关(P>0.05)。结论:MTHFR基因C677T及MS基因A2756G多态性与AD发生不相关,AD患者血浆Hcy水平升高可能主要与体内叶酸、VitB12不足有关。

Objective To explore the association between methylenetetrahydrofolate reductase （MTHFR） C677T/methionine synthase （MS） A2756G gene polymorphisms, homocysteine （Hcy） plasma levels and Alzheimer＇s disease （AD）. Methods MTHFR and MS gene polymorphisms, plasma Hcy, folie acid and vitamin B12 of 75 cases of AD patients and 71 cases of health controls were analyzed by PCR-based assay. Results （ 1 ） There were no statistical difference in genotype frequencies and allele frequencies between AD and controls （P 〉 0.05）. （2） Plasma Hcy levels of controls with MTHFR T allele increased （P 〈 0.05 ）. There were no correlation between plasma Hey levels and MS A2756G genotype in both groups. Conclusions MTHFR C677T and MS A2756G gene polymorphisms are not related with AD occurrence. High Hcy plasma level in AD may be mainly related with deficiency of folic acid and vitamin B12.