叶辉,严江涛,邵娇梅,张帆,洪茂林,汪道文.血浆同型半胱氨酸水平及亚甲基四氢叶酸还原酶基因突变与脑卒中关系的病例对照研究[J].中华流行病学杂志,2004,25(11):958-961 |
血浆同型半胱氨酸水平及亚甲基四氢叶酸还原酶基因突变与脑卒中关系的病例对照研究 |
A case-control study on the relationship between stroke and plasma homocysteine level and the mutation of MTHFR gene |
收稿日期:2004-01-30 出版日期:2014-09-17 |
DOI: |
中文关键词: 脑卒中 同型半胱氨酸 亚甲基四氢叶酸还原酶 |
英文关键词: Stroke Homocysteine Methylenetetrahydrofolate reductase |
基金项目:国家“973”重大基础研究基金(G2000056901) |
作者 | 单位 | E-mail | 叶辉 | 华中科技大学同济医学院附属同济医院心内科, 武汉, 430030 | | 严江涛 | 华中科技大学同济医学院附属同济医院心内科, 武汉, 430030 | | 邵娇梅 | 华中科技大学同济医学院附属同济医院心内科, 武汉, 430030 | | 张帆 | 华中科技大学同济医学院附属同济医院心内科, 武汉, 430030 | | 洪茂林 | 华中科技大学同济医学院附属同济医院心内科, 武汉, 430030 | | 汪道文 | 华中科技大学同济医学院附属同济医院心内科, 武汉, 430030 | dwwang@tjh.tjmu.edu.cn |
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中文摘要: |
目的 探讨中国人脑卒中与血浆同型半胱氨酸(Hcy)水平及N5N10亚甲基四氢叶酸还原酶(MTHFR)基因突变的关系。方法 收集脑卒中患者300例为病例组,选择300名性别、年龄和种族等与病例组相匹配的无脑卒中者作为对照组,采用高效液相色谱的方法检测两组的血浆Hcy水平,并通过聚合酶链反应和限制性酶切的方法对其MTHFR C677T基因型进行鉴定,统计分析血浆Hcy水平与脑卒中的关系,以及MTHFR C677T基因突变与脑卒中发生的关系及其对血浆Hcy水平的影响。结果 脑卒中组血浆Hcy水平显著高于对照组[(16.92±3.43)μmol/L vs(14.57±2.59)μmol/L,P<0.05];MTHFR C677T基因突变率在脑卒中组与对照组之间差异无统计学意义(P>0.05),在脑溢血和脑梗死组之间差异也无统计学意义(P>0.05);MTHFR C677T基因变异对血浆Hcy水平无明显影响[(15.28±2.17)μmol/L vs(15.11±3.81)μmol/L,P>0.05]。结论 血浆Hcy水平升高在中国人脑卒中的发生中起着重要的作用,而Hcy代谢过程中的关键酶MTHFR基因的C677T突变与血浆Hcy水平无明显关系,而且与脑卒中的发生无相关性,因此控制血浆Hcy水平在预防心脑血管疾病的发生中有重要意义 |
英文摘要: |
Objective To study the relationship of stroke and plasma homocysteine (Hcy) level and the mutation of methylenetetrahydrofolate reductase(MTHFR)gene. Methods Three hundred patients with stroke were included as the case group in this study while 300 subjects without stroke matched with the case group for sex and age were collected as the control group. Plasma Hcy level was measured using HPLC and MTHFR 667C→T ruutant was determined by polymerase chain reaction and restriction fragment analysis. The relationship of stroke and plasma Hcy level and the mutation of MTHFR gene was then analysed. Results The plasma Hcy level of the case group was significantly higher than that of the control group(16.92±3.43μmol/L vs. 14.57±2.59μmol/L, P<0.05 ). There was no significant difference in mutation rate of MTHFR C677T between stroke group and control group(P>0.05), as well as between ischemic stroke group and homorrhagic stroke group(P>0.05). The mutation of MTHFR C677T had no significant influence on the Hcy level(15.28±2.17μmol/L vs. 15.11±3.81μmol/L, P>0.05). Conclusion Increased plasma Hey level played an important role in the occurrence of stroke in Chinese people, and the mutation of MTHFR C677T was not associated with Hcy level or stroke which led to the speculation that plasma Hcy level was important in the prevention of cardio-cerebro-vascular diseases among Chinese people. |
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