新疆哈萨克族人群同型半胱氨酸及其代谢酶基因多态性与原发性高血压的关系

Association of Homocysteine and its metabolic enzyme genes polymorphisms with essential hypertension in Xinjiang Kazakhs

背景:新疆哈萨克族人群高血压的发病率居全国前列,但其发病机制至今未明。有报道证实同型半胱氨酸与许多心血管疾病的发病有关,但同型半胱氨酸水平及代谢酶基因多态性与新疆哈萨克族人群原发性高血压是否存在关系尚无报道。目的:探讨同型半胱氨酸水平及亚甲基四氢叶酸还原酶A1298C、甲硫氨酸合酶A2756G多态性与新疆哈萨克族人群原发性高血压的关系。方法:纳入408例哈萨克族受试者,分成两组,高血压组195例,其中男性93例,女性102例,平均年龄(49.44±9.71)岁;对照组213例,其中男性95例,女性118例,平均年龄(40.82±8.87)岁。应用特异引物PCR及聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法,检测两组亚甲基四氢叶酸还原酶基因A1298C、甲硫氨酸合酶A2756G多态位点的基因型;采用酶标免疫吸附法检测血浆同型半胱氨酸水平。结果与结论:高血压组血浆同型半胱氨酸水平明显高于正常对照组(P<0.05),且血浆同型半胱氨酸水平有性别差异,男性血浆同型半胱氨酸水平明显高于女性(P<0.05)。两组间亚甲基四氢叶酸还原酶A1298C、甲硫氨酸合酶A2756G各多态位点及联合基因的基因型和等位基因频率分布无明显差异(P>0.05)。亚甲基四氢叶酸还原酶A1298C、甲硫氨酸合酶A2756G各基因型和各联合基因型之间的血浆同型半胱氨酸水平比较无明显差异(P>0.05)。结果表明新疆哈萨克族人群亚甲基四氢叶酸还原酶基因A1298C、甲硫氨酸合酶基因A2756G位点多态性与新疆哈萨克族人群原发性高血压的发生无明显的相关性。血浆同型半胱氨酸水平可能是新疆哈萨克族人群高血压发生的危险因素,但不是独立的危险因素。

BACKGROUND：The incidence of hypertension in Xinjiang Kazakhs belongs to front row in country,but the pathogenesis of hypertension remains poorly understood.It is reported and confirmed that Homocysteine（Hcy） has relation with many cardiovascular diseases,but there are still no reports whether the level of Hcy and gene polymorphism of Hcy metabolism-related enzymes exist relation with essential hypertension in Xinjiang Kazakhs.OBJECTIVE：To investigate the relationship of homocysteine,methylenetetrahydrofolate reductase（MTHFR） A1298C,methionine synthase（MS） A2756G polymorphisms and essential hypertension in Xinjiang Kazakhs.METHODS：A total of 408 Kazakhs subjects were divided into 2 groups：the hypertension group（n = 195）,including 93 males and 102 females,average aged（49.44±9.71） years.Control group（n = 213）,including 95 males and 118 females,mean aged（40.82±8.87） years.The gene polymorphisms of MTHFR A1298C and MS A2756G were measured by specific primer PCR and polymerase chain reaction-Restriction fragmentlength polymorphism（PCR-RFLP） method.The levels of plasma Hcy were measured using enzymoimmunoassay.RESULTS AND CONCLUSION：The level of plasma Hcy were significantly higher in the hypertension group than that of the control group（P 0.05）,and there was significant difference in gender,the level of plasma Hcy in male was higher than that in female（P 0.05）.The distribution of genotypic and allelic frequencies had no significant difference between the hypertension group and the control group（P 0.05）.There were no significant difference in the level of plasma Hcy among subjects with the difference genotypes in MTHFR A1298C,MS A2756G and jointed genotypes in MTHFR A1298C and MS A2756G（P 0.05）.There was probably no relation between MTHFR A1298C and MS A2756G genetic polymorphism and essential hypertension in Xinjiang Kazakhs.Higher level of Hcy was probably a risk factor for hypertension in Xinjiang Kazakhs,but it was not an independent risk factor for hypertension in Xinjiang Kazakhs.