内皮型一氧化氮合酶基因多态性与高血压病发病相关性的研究  

Relationship between genetic polymorphism of eNOS gene and Essential Hypertension

作　　者：刘永生,韩洪波 刘永生[1] 韩洪波[2] 

机构地区：[1]解放军第208医院心内科,吉林长春130062 [2]解放军第208医院内分泌科,吉林长春130062

出　　处：《中国实验诊断学》2014年第1期45-48,共4页Chinese Journal of Laboratory Diagnosis

摘　　要：目的研究内皮型一氧化氮合酶(eNOS)基因启动子-786位点及第七外显子第894位点多态性与高血压病发病的相关性。方法采用病例对照研究的方法,以215名高血压病患者与108名健康中老年人的血白细胞为样本,应用聚合酶链反应一限制性片段长度多态性技术检测两组的内皮型一氧化氮合酶基因启动子-786位点T/C多态性及第七外显子第894位点G/T多态性,比较两组的基因型和等位基因的分布频率。通过两基因位点多态性的分布频率研究两基因变异在高血压病的发病中是否存在协同作用。结果 eNOS基因启动子-786位点T/T、T/C和C/C基因型在高血压病组中分别为22.79%、50.70%、26.51%,在正常中老年人组中分别为36.11%、52.78%、11.11%,此位点高血压病组与正常中老年人组的基因分布频率差异有显著性。eNOS基因第七外显子第894位点G/G、G/T和T/T基因型在高血压病组中分别为69.30%、22.33%、8.37%,在正常中老年人组中分别为82.41%、15.74%、1.85%,此位点高血压病组与正常中老年人组的基因分布频率差异有显著性。当如上两基因型为CC+TT或TC+TT时,经计算患高血压病的OR值明显大于基因型为TT+GG者。结论①eNOS基因启动子-786位点及第七外显子第894位点基因多态性与高血压病的发病有一定程度的相关性;②eNOS基因启动子-786位点T/T及第七外显子894位点G/G是高血压病的保护性基因;③两基因变异在高血压病的发病中可能有一定程度的协同作用。Objective To detect the relationship between genetic polymorphism of eNOS gene and Essential Hyper- tension. Methods Polymorphism of the promoter region -786 T/C and 894th site G/T of eNOS gene were detected by polymerase chain reaction-restrition fragment length polymorphism in patients with Essential Hypertension（n= 215） and normal controls （n= 108）. OR and 95%CI were studied to find the interaction between polymorphisms of both two sides which we studied. Results To eNOS promoter region -786, the frequencies of TT, TC and CC genotype was 22.79% ,50.70% and 26.51%in patients with Essential Hypertension and 36. 11% ,52.78% and 11. 11% in normal controls. A significant difference was seen in the distribution frequency in the two groups of patients with Essential Hy- pertension and normal controls. To the 894th site of the seventh extron of eNOS the frequencies of GG,GT and TT genotype was 69.30% ,22.33% and 8.37%in patients with Essential Hypertension and 82.41% ,15.74% and 1.85% in normal controls. A significant difference was also seen in the two groups. When the genotypes of the two sites are CC and TT or TC and TT the OR of morbility of Essential Hypertension are much higher than that when they are TT and GG. Conclusion Polymorphisms of the promoter region-786 T/C and 894th site G/T of eNOS gene have something to do with morbiiity of Essential Hypertension. Genotypes TT of the promoter region -786 and GG of 894th site of eNOS gene may have some protective effect against Essential Hypertension. There may exist some interaction between poly- morphisms of the two sites we studied.

关 键 词：内皮型一氧化氮合酶 高血压病 基因 遗传多态性 

分 类 号：R544.1[医药卫生—心血管疾病]