同型半胱氨酸水平与N5,10-亚甲基四氢叶酸还原酶基因多态性的关系  

Homocysteine level and N5,10-methylenetetrahydrofolate reductase gene polymorphism in hypertensive population

作　　者：宗永华[1] 李小鹰[2] 陈光亮[3] 徐希平[3] 李建平[4] 霍勇[4] 魏经汉[1] 赵洛沙[1] 

机构地区：[1]郑州大学第一附属医院心内科,郑州450052 [2]解放军301医院老年医学 [3]安徽医科大学生物医学研究所 [4]北京大学第一医院心血管科

出　　处：《临床心血管病杂志》2011年第3期203-207,共5页Journal of Clinical Cardiology

摘　　要：目的:探索高血压人群中同型半胱氨酸(Hcy)水平与N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性和其他相关因素的关系。方法:应用配对方法选取241例原发性高血压患者,应用高效液相色谱荧光检测法测定血浆Hcy水平,用聚合酶链反应-限制性片段的多态性技术检测MTHFR基因C677T多态性。结果:①相关分析显示,TT基因型患者Hcy平均水平大于CC基因型和CT基因型患者,调整混杂因素前后差异有统计学意义(P<0.01);CC基因型和CT基因型之间差异无统计学意义(男性P=0.899,女性P=0.921)。②男性Hcy[(12.8±7.2)μmol/L]高于女性[(9.7±4.7)μmol/L],男性H-型高血压的比例(60.3%)高于女性(29.6%)。③logistic回归模型显示,TT基因型患者中H型高血压的比例(80.6%)高于CT和CC基因型,男性在调整混杂因素前后差异有统计学意义(P<0.05);女性在合并CC、CT基因型后与TT基因型的比较中,差异有统计学意义(P<0.05)。结论:高血压人群中MTHFR基因C677T纯合突变可能是Hcy升高和H型高血压的重要遗传因素,而且存在性别差异。Objective：To explore the relationship of homocysteine（Hcy） level and N5,10-methylenetetrahydrofolate reductase（MTHFR） C677T gene polymorphism and other relevant factors in hypertensive population.Method：HPLC with fluorescence detected plasma Hcy level and polymerase chain reaction-restriction fragment polymorphism detected MTHFR gene C677T polymorphism.Result：①The correlation analysis showed that the TT genotype＇s average level of Hcy was greater than the CC genotype＇s and CT genotype＇s, before and after adjusting for confounding factors（P0.01）.There was no significant difference between CC genotype＇s and CT genotype＇s（male P=0.899,women P=0.921）.②The average lever of Hcy（12.78±7.20 μmol/L） in men was greater than in females（9.68±4.71 μmol/L）,the proportion of H-type hypertension in men（60.3%） was greater than females（29.6%）.③Logistic regression models showed that the proportion of H-type hypertension in TT genotype（80.6%） was higher than in CT and CC genotypes,The OR values were 3.7 and 2.3 for men and women,in men before and after adjusting for confounding factors the difference was statistically significant（P0.05）.In women,after combined CC,CT genotype and compared with TT genotype,the difference was statistically significant（P0.05） which showed there had a certain correlation among them.Conclusion：In hypertensive population,the MTHFR gene C677T mutation homozygous may be the important genetic factors to elevated Hcy and H-high blood pressure and exist gender differences.

关 键 词：高血压 同型半胱氨酸 基因多态性 N5 10-亚甲基四氢叶酸还原酶 

分 类 号：R544.1[医药卫生—心血管疾病]