Ye Hui, Yan Jiang-tao, Shao Jiao-mei, Zhang Fan, Hong Mao-lin, Wang Dao-wen
Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Zhonghua Liu Xing Bing Xue Za Zhi. 2004 Nov;25(11):958-61.
To study the relationship of stroke and plasma homocysteine (Hcy) level and the mutation of methylenetetrahydrofolate reductase (MTHFR) gene.
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 mutant 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.
The plasma Hcy level of the case group was significantly higher than that of the control group (16.92 +/- 3.43 micromol/L vs. 14.57 +/- 2.59 micromol/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 +/- 2.17 micromol/L vs. 15.11 +/- 3.81 micromol/L, P >0.05).
Increased plasma Hcy 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.
研究脑卒中与血浆同型半胱氨酸（Hcy）水平及亚甲基四氢叶酸还原酶（MTHFR）基因突变的关系。
本研究纳入300例脑卒中患者作为病例组，同时收集300例年龄和性别与病例组相匹配的非脑卒中受试者作为对照组。采用高效液相色谱法测定血浆Hcy水平，通过聚合酶链反应和限制性片段分析确定MTHFR 667C→T突变。然后分析脑卒中与血浆Hcy水平及MTHFR基因突变的关系。
病例组血浆Hcy水平显著高于对照组（16.92±3.43微摩尔/升对14.57±2.59微摩尔/升，P<0.05）。脑卒中组与对照组之间MTHFR C677T突变率无显著差异（P>0.05），缺血性脑卒中组与出血性脑卒中组之间也无显著差异（P>0.05）。MTHFR C677T突变对Hcy水平无显著影响（15.28±2.17微摩尔/升对15.11±3.81微摩尔/升，P>0.05）。
血浆Hcy水平升高在中国人群脑卒中发生中起重要作用，MTHFR C677T突变与Hcy水平及脑卒中无关，这提示血浆Hcy水平在中国人群心脑血管疾病预防中具有重要意义。
