同型半胱氨酸及其代谢酶MTHFR A1298C基因多态性与新疆哈萨克族原发性高血压的关系

目的探讨同型半胱氨酸(Hcy)及MTHFRA1298C多态性与新疆哈萨克族原发性高血压的关系。方法应用特异引物PCR检测MTHFRA1298C基因型;酶标免疫吸附法检测血浆Hcy水平。结果 (1)高血压组血浆Hcy水平明显高于对照组(P0.01)。两组男性血浆Hcy水平均高于同组女性(P0.05)。(2)MTHFRA1298C的基因型和等位基因频率分布在两组间差异无统计学意义;MTHFR A1298C三种基因型的血浆Hcy水平差异无统计学意义。(3)Logistic回归分析,MTHFR A1298C基因多态性、血浆Hcy水平不是新疆哈萨克族高血压发病的独立危险因素。结论 (1)血浆Hcy可能与新疆哈萨克族高血压发病相关。(2)MTHFR A1298C基因多态性与新疆哈萨克族高血压的发生无明显的相关关系。MTHFR基因A1298C点突变可能不是影响血浆Hcy水平的重要遗传因素。

Relationship of Homocysteine, Methylenetetrahydrofolate Reductase (MTHFR) A1298C Polymorphisms and Essential Hypertension in Xinjiang Kazakhs

Objective： To investigate the relationship of homocysteine as well as methylenetetrahydrofolate reductase（MTHFR） A1298C polymorphisms and essential hypertension in Xinjiang Kazakhs.Methods：The gene polymorphisms of MTHFR A1298C was measured by specific primer PCR method.The level of plasma homocysteine was measured using enzymoimmunoassay.Results：（1） The level of plasma homocysteine in hypertension group was significant higher than that of control group（P0.01）.The level of plasma homocysteine in male was higher than that of female in two groups（P0.05）.（2） The distribution of genotypic and allelic frequencies had no significant difference between EH group and NH group.There was no significant difference in the level of plasma homocysteine among subjects with the AA,AC and CC genotypes.（3） The genotypes of the MTHFR A1298C polymorphism and the level of plasma homocysteine were excluded as independent variables which related to the blood pressure of subjects after controlling the confounding factors like age,gender,BMI by multiple logistic analysis.Conclusions：（1） There probably is relation between homocysteine and Essential hypertension in Xinjiang Kazakhs.（2） There is no relation between MTHFR A1298C genetic polymorphism and essential hypertension in Xinjiang Kazakhs.The MTHFR A1298C genetic polymorphism probably is not important hereditary factor at affecting the level of plasma homocysteine in Xinjiang Kazakhs.