内皮型一氧化氮合酶基因启动子-786位点多态性与原发性高血压发病相关性的研究

Relationship between genetic polymorphism of the promoter region-786 of eNOS gene and essential hypertension

目的 研究内皮型一氧化氮合酶（eNOS）基因启动子-786位点多态性与原发性高血压发病的相关性,同时研究此位点多态性与原发性高血压的程度及血压节律是否相关.方法 采用病例对照研究的方法,以232例原发性高血压患者与130名健康中老年人的血白细胞为样本,应用聚合酶链反应-限制性片段长度多态性技术检测两组的eNOS基因启动子-786位点T/C多态性,比较两组的基因型和等位基因的分布频率.高血压组内按高血压的危险分层分为低危、中危、高危组分别为89、78、65例,按血压节律性分为杓型与非杓型组分别为109、123例,比较各组eNOS基因启动子-786位点的基因型和等位基因的分布频率.结果 eNOS基因启动子-786位点T/T、T/C和C/C基因型在高血压组中分别为22.84％、50.87％、26.29％,在正常中老年人组中分别为36.15％、53.08％、10.77％,此位点高血压组与正常中老年人组的基因分布频率差异有统计学意义.eNOS基因启动子-786位点T/T、T/C和C/C基因型在高血压低危、中危、高危各组中分布频率无显著差异,在依据血压节律的分组中差异也无统计学意义.结论 ①eNOS基因启动子-786位点与原发性高血压发病有一定程度的相关性;②eNOS基因启动子-786位点T/T是原发性高血压的保护性基因;③eNOS基因启动子-786位点的基因型与原发性高血压的程度及血压节律改变无明显相关性.

Objective To detect the relationship between genetic polymorphism of eNOS gene and essential hypeension.Methods Polymorphism of the promoter region-786 T/C of eNOS gene was detected by polymerase chain reaction-restriction fragment length polymorphism in patients with essential hypertension（n=232） and normal controls （n=130）.In hypertensive patients there were 89 patients of low risk,78 of risk and 65 of high risk.At the same time hypertensive patients were divided into dipper blood pressure group （n=109） and non-dipper blood pressure group （n=123） by the change of blood pressure rhythm.The frequencies of T/T,T/C and C/C genotype of eNOS promoter rngion-786 were compared in these groups.Results The frequencies of T/T,T/C and C/C genotype of eNOS promoter region-786 were 22.84％,50.87％ and 26.29％ in patients with essential hypertension and 36.15％,53.08％ and 10.77％ in normal controls.A significant difference was seen in the distribution frequency in the two groups of patients with essential hypertension and normal controls.No significant difference was seen when the risk of hypertension was increasing and the blood pressure rhythm was changing from dipper blood pressure to non-dipper blood pressure.Conclusion Polymorphism of the promoter region-786 T/C of eNOS gene has something to do with morbility of essential hypertension Genotypes T/T of the promoter region-786 of eNOS gene may have some protective effect against essential hypertension.Polymorphism of the promoter region786 T/C has nothing to do with the extent and the change of blood pressure rhythm of essential hypertension.