Influence of Combined Methionine Synthase (MTR 2756A > G) and Methylenetetrahydrofolate Reductase (MTHFR 677C > T) Polymorphisms to Plasma Homocysteine Levels in Korean Patients with Ischemic Stroke
Influence of Combined Methionine Synthase (MTR 2756A > G) and Methylenetetrahydrofolate Reductase (MTHFR 677C > T) Polymorphisms to Plasma Homocysteine Levels in Korean Patients with Ischemic Stroke
复制标题
蛋氨酸合酶 (MTR 2756A > G) 和亚甲基四氢叶酸还原酶 (MTHFR 677C > T) 联合多态性对韩国缺血性中风患者血浆同型半胱氨酸水平的影响
作者：
O. Kim;S. Hong;J. Ahn;Seung;T. S. Hwang;Soo‐Ok Kim;W. Yoo;D. Oh;N. Kim
目的蛋氨酸合成酶（MTR）和5，10-亚甲基四氢叶酸还原酶（MTHFR）是同型半胱氨酸代谢的主要调节酶。本病例对照研究旨在确定韩国缺血性卒中患者MTR 2756 A> G或MTHFR 677 C> T多态性与血浆同型半胱氨酸浓度之间是否存在关联。材料与方法对237例缺血性脑卒中患者和223例年龄、性别相匹配的对照者的DNA进行研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测MTR 2756 A> G和MTHFR 677 C> T基因型。结果MTR和MTHFR基因多态性的突变等位基因频率在对照组和病例组之间差异无统计学意义。然而，患者组MTR 2756 AA和MTHFR 677 TT基因型的同型半胱氨酸浓度显著高于对照组（MTR p = 0.04，MTHFR p = 0.01）。MTR 2756 AA和MTHFR 677 TT基因型（p = 0.04）和同型半胱氨酸浓度也高于对照组。此外，MTHFR 677 TT基因型（p = 0.008）和MTR 2756 AA和MTHFR 677 TT基因型（p = 0.03）的基因型分布具有显著性，根据其同型半胱氨酸水平将各组分为前20%和后20%。结论MTR 2756 A> G和MTHFR 677 C> T基因多态性与总同型半胱氨酸（tHcy）水平升高相互作用，导致缺血性脑卒中的危险性增加。
Purpose Methionine synthase (MTR) and 5,10-methylenetetrahydrofolate reductase (MTHFR) are the main regulatory enzymes for homocysteine metabolism. The present case-control study was conducted to determine whether there is an association between the MTR 2756A > G or MTHFR 677C > T polymorphism and plasma homocysteine concentration in Korean subjects with ischemic stroke. Materials and Methods DNA samples of 237 patients who had an ischemic stroke and 223 age and sex-matched controls were studied. MTR 2756A > G and MTHFR 677C > T genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results Frequencies of mutant alleles for MTR and MTHFR polymorphisms were not significantly different between the controls and cases. The patient group, however, had significantly higher homocysteine concentrations of the MTR 2756AA and MTHFR 677TT genotypes than the control group (p = 0.04 for MTR, p = 0.01 for MTHFR). The combined MTR 2756AA and MTHFR 677TT genotype (p = 0.04) and the homocysteine concentrations of the patient group were also higher than those of the controls. In addition, the genotype distribution was significant in the MTHFR 677TT genotype (p = 0.008) and combined MTR 2756AA and MTHFR 677TT genotype (p = 0.03), which divided the groups into the top 20% and bottom 20% based on their homocysteine levels. Conclusion The results of the present study demonstrate that the MTR 2756A > G and MTHFR 677C > T polymorphisms interact with elevated total homocysteine (tHcy) levels, leading to an increased risk of ischemic stroke.
影响因子：
3.8
作者：
Huiping Zhu;N. Wicker;G. Shaw;E. Lammer;K. Hendricks;L. Suarez;M. Canfield;R. Finnell
通讯作者：
Huiping Zhu;N. Wicker;G. Shaw;E. Lammer;K. Hendricks;L. Suarez;M. Canfield;R. Finnell
影响因子：
5.3
作者：
Chen, J;Stampfer, MJ;Hunter, DJ
通讯作者：
Hunter, DJ
影响因子：
37.8
作者：
Ma, J;Stampfer, MJ;Rozen, R
通讯作者：
Rozen, R