冠心病患者亚甲基四氢叶酸还原酶和内皮型一氧化氮合酶基因串联重复序列多态性与同型半胱氨酸水平相关性分析  

Association of MTHFR and NOS3 VNTR polymorphisms with Hcy levels in patients with coronary heart disease

作　　者：赵唱 贺欣 ZHAO Chang;HE Xin(Department 3 of Cardiology,the First Affiliated Hospital of Jinzhou Medical University,Jinzhou,Liaoning 121000,China)

机构地区：[1]锦州医科大学第一附属医院心内三科,辽宁锦州121000

出　　处：《中国卫生检验杂志》2020年第13期1580-1583,共4页Chinese Journal of Health Laboratory Technology

基　　金：辽宁省科学技术计划项目(2013022002)。

摘　　要：目的分析亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性、内皮型一氧化氮合酶(NOS3)的基因串联重复序列(VNTR)多态性与血浆同型半胱氨酸(Hcy)水平关系,以及2种突变对Hcy的影响。方法选择冠心病患者153例,同时选取149例对照组。应用体外扩增-酶切长度多态性(PCR-RFLP)技术检测MTHFR基因C677T位点基因多态性、应用凝胶电泳检测NOS3 VNTR基因多态性。结果 Hcy水平在TT基因型中最高,在CC基因型中最低;冠心病(CHD)组的T等位基因频率显著高于对照组;CHD组的4a等位基因频率显著高于对照组。在CHD组中,Hcy水平在4a4a基因型中最高;TT4a4a基因型血浆Hcy最高,CC4b4b基因型血浆Hcy水平最低。结论 MTHFR C677T基因多态性和NOS3 VNTR可影响Hcy水平,其两者联合突变对血浆高Hcy有共同促进作用。Objective To analyze the relationship between methylenetetrahydrofolate reductase(MTHFR)gene C677T polymorphism,endothelial nitric oxide synthase(NOS3)gene tandem repeat(VNTR)polymorphism and the plasma homocysteine(Hcy)level.Methods A total of 153 patients with coronary heart disease and 149 controls were selected.In vitro amplification and restriction fragment length polymorphism(PCR-RFLP)was used to detect the polymorphism of MTHFR gene C677T locus,and NOS3 VNTR gene polymorphism was detected by capillary electrophoresis.Results Hcy level was the highest in TT genotype and the lowest in CC genotype,and T allele frequency in CHD group was significantly higher than that in control group.The frequency of 4a allele in CHD group was significantly higher than that in control group.In CHD group,Hcy level was highest in 4a4a genotype,the highest in TT4a4a genotype and the lowest in CC4b4b genotype.Conclusion MTHFR C677T gene polymorphism and NOS3 VNTR can affect the level of Hcy.The combined mutation of MTHFR C677T gene and NOS3 VNTR can promote high plasma Hcy.

关 键 词：同型半胱氨酸 内皮型一氧化氮合酶 亚甲基四氢叶酸还原酶 基因多态性 

分 类 号：R541.4[医药卫生—心血管疾病]