同型半胱氨酸代谢关键酶基因多态性与单纯收缩期高血压关系的初步研究

目的:探讨亚甲基-四氢叶酸还原酶（MTHFR）基因C677T、蛋氨酸合成酶还原酶（MTRR）基因A66G、蛋氨酸合成酶（MS）基因A2756G 3种同型半胱氨酸代谢相关酶基因多态性与单纯收缩期高血压（ISH）患者的关系。方法:以 220例单纯收缩期高血压患者作为试验组对象，选择同期就诊的无高血压患者130例作为对照组，检测其血中同型半胱氨酸水平，并应用分子生物学方法对MTHFR C677T、MTRR A66G、MS A2756G 3个基因位点进行多态性检测。结果:（1）ISH组患者血中同型半胱氨酸水平(14.81±5.88)?mol/L]高于对照组（12.71±4.32）?mol/L]，有统计学意义(P<0.05）；(2)ISH组患者MTHFR T/T及C/T基因型分布频率和T等位基因频率（分别为19.5%、60%、49.5%）均高于对照组（分别为15.4%、45.4%、38.1%）（P<0.05）。(3)MS基因A2756G 的各型基因型分布频率及等位基因频率与对照组比较差异无明显统计学意义。(4)ISH组患者MTRR基因A/G及G/G基因型分布频率和G等位基因分布频率低于对照组,但无统计学意义。结论 :同型半胱氨酸对ISH的影响可能一部分是通过其关键酶基因的突变造成的；MTHFR基因C677T位点的突变可能是ISH的遗传危险因子；而MTRR基因A66G、MS基因A2756的多态性改变与ISH的发生可能无明显关系。

Preliminary study on the relationship between the gene polymorphisms of homocysteine metabolism-related enzymes and isolated systolic hypertension

Objective: To study the relationship between the isolated systolic hypertension(ISH) and the gene polymorphisms of homocysteine (Hcy) metabolism-related enzymes. Methods: Two hundred and twenty patients with isolated systolic hypertension were collected as the experimental group and 130 patients without high blood pressure were recruited as the control group. The levels of homocysteine in their blood were detected and the gene polymorphisms of MTHFR C677T( methylenetetrahydrofolate reductase gene C677T), MTRR A66G(methionine synthase reductase gene A66G), MS A2756G (methionine synthase gene A2756G) were tested by using the methods of molecular biology. Results (1)The levels of Hcy in experimental group were higher than those in controls（P <0.05）. (2)The T／T ,T/C genotype frequency and allele T frequency of MTHFR in experimental group were significantly higher than that in controls（P <0.05）.(3)There were no significant differences in the genotype frequency of MS among the experimental group and control group．(4)The A/G , G/G genotype frequency and allele G frequency of MTRR in experimental group were lower than that in the control group, but with no statistical significance(P >0.05). Conclusion: The mutation of C677T in MTHFR gene may be associated with the incidence of ISH while the MTRR A66G gene and the MS A2756G gene polymorphism may be not the correlated genes for ISH.