MTHFR基因多态性及血浆同型半胱氨酸水平与中青年人脑梗死的关系  

Association of polymorphism of MTHFR gene and plasma homocysteine with stroke in Chinese youth and middle-aged adults

作　　者：王利军[1] 牛小媛[1] 琚小红[1] 李雷利[1] 武艳琴[1] 田玉玲[1] 

机构地区：[1]山西医科大学第一临床医学院神经内科,山西太原030001

出　　处：《中风与神经疾病杂志》2006年第4期478-481,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨N5、N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点突变和血浆总同型半胱氨酸(tHcy)水平与中青年脑梗死发病的关系。方法对140例研究对象采用多聚酶链反应-限制性内切酶片段长度多态性技术),检测MTHFRC667T基因型,用高效液相色谱法测定血浆总同型半胱氨酸水平,同时所有研究对象记录其病史、体检及一些实验室检查资料。结果脑卒中患者MTHFR基因纯合子突变(T)和杂合子突变(CT)发生率(76.3%)明显高于对照组(55.0%,P=<0.05),卒中组T等位基因频率(55.05%)也高于对照组(37.5%,P<0.05);脑梗死患者血浆总同型半胱氨酸水平及异常检出率明显高于对照组(P<0.001)。Logistic回归分析结果显示:在调整传统危险因素后,升高的Hcy水平和中青年脑梗死发病有关。结论高同型半胱氨酸血症是中国中青年人群中脑梗死发病的一个重要的独立危险因素,而MTHFR基因C677T位点突变可能是高同型半胱氨酸的重要遗传因素,可能和其它危险因素等存在交互作用。Objective To investigate whether the genetic mutations of methylenetetrahydrofolate reductase （MTNFR）C667 and elevted plasma total homoeysteine（tHey）increase risk of stroke in Chinese youth and middleaged adults. Methods 140 objects were recruited. MTHTR genetic C667T Polymorphism was determined by PCRRLFP. Plasma total homocysteines levels were measured with high performance liquid chromatography. Date of medical history,physical examination and some laboratory examination were also collected. Results the frequence of homozygous and heterozygou MTHFR mutation in stroke patients were higher than in controls （versus P〈 0.01）. The mean plasm tHcy and incidence （%） of hyperhomocysteinernia were significantly higher in stroke group than contol group（versus p）. The tHcy concentration was significantly higher in persons with TT genotype than in those with CC or CT Multiple stepwise logistic regression analysis showed that elevated tHcy levels was significantly associated with stroke after adjusted the conventionl risk factors. Conclusion Hyperhomocysteinemia is an independent risk factor for stroke in Chinese youth and middle-aged adults. Genetic mutations of MTHFR C677T is possibly important mechanism of hyperhomoeysteinemia,but it hasn＇t been considered an independent risk factor for stroke in Chinese youth and middle-aged adults. There may be interaetons with other risk factors.

关 键 词：脑卒中 同型半胱氨酸 基因 

分 类 号：R743.3[医药卫生—神经病学与精神病学]