内皮型一氧化氮合酶基因rs3918181位点多态性与原发性高血压的关系研究  

Association of endothelial nitric oxide synthase gene polymorphism with essential hypertension

作　　者：闫雪[1] 王伟[2] 梁蓉[2] 毛用敏[3] 

机构地区：[1]天津医科大学研究生院,300070 [2]天津市胸科医院心内科 [3]天津市胸科医院心血管病研究所

出　　处：《中国心血管杂志》2013年第4期280-282,共3页Chinese Journal of Cardiovascular Medicine

摘　　要：目的探讨天津市汉族人群内皮型一氧化氮合酶(eNOS)基因第14内含子rs3918181位点多态性与原发性高血压(EH)的关系。方法采用聚合酶链反应-限制性内切酶片段长度多态分析法(PCR-RFLP)对290例EH患者和161名健康对照者的eNOS基因rs3918181位点进行基因多态性分型,同时检测所有研究对象的血脂等危险因素,分析不同基因型与EH发病的关系。结果两组年龄、体质指数的差异有统计学意义(均为P<0.05)。EH组患者的AA、AG和GG基因型分布频率分别为0.293、0.393和0.314,对照组分别为0.180、0.472和0.348,两组相比差异有统计学意义(均为P<0.05);EH组A与G等位基因频率分别为0.490和0.510,对照组分别为0.416和0.584,两组相比差异有统计学意义(均为P<0.05)。影响EH的危险因素有年龄、体质指数。结论 eNOS基因rs3918181位点多态性与EH相关。Objective To investigate the relationship between intron 14 th rs3918181 site polymorphism of endothelial nitric oxide synthase （eNOS） gene and essential hypertension （ EH ） in Han people living in Tianjin. Methods The polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method was used to detect genetypes of rs3918181 site in 290 patients with EH and 161 controls. The plasma lipid levels and other risk factors were determined in all subjects. The relationship between genotypes and pathogenesis of essential hypertension was analyzed. Results There were significant differences in age and BMI between EH group and control group （ P 〈 0. 05 ）. The frequencies of AA, AG, GG genotypes were 0.293, 0.393, 0. 314 in EH group respectively. The frequencies of AA, AG, GG genotypes were 0. 180, 0.472, 0. 348 in control group respectively. There was significant difference in frequencies of genotype distribution between two groups （ P 〈 0. 05 ）. The frequencies of A and G alleles were 0. 490, 0. 510 in EH group, The frequencies of A and G alleles were 0. 416, 0. 584 in control group, There was significant difference in frequencies of allele distribution between two groups （ P 〈 0. 05 ）. The independent risk factors of EH were age and body mass index （BMI）. Conclusions The polymorphism of eNOS rs3918181 site was associated with hypertension.

关 键 词：高血压 一氧化氮合酶 基因 多态性 限制性片段长度 

分 类 号：R544.1[医药卫生—心血管疾病]