肾素基因启动子区单倍型与原发性高血压的关系  

Renin gene promoter haplotypes and essential hypertension

作　　者：金玮[1] 吴志俊[1] 陆林[1] 陈秋静[1] 刘艳[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院心内科,上海200025

出　　处：《诊断学理论与实践》2010年第2期166-169,共4页Journal of Diagnostics Concepts & Practice

基　　金：国家自然科学基金(30500576);上海市青年科技启明星计划(06QA14033);上海市科学技术发展基金项目(08411963500)

摘　　要：目的:在中国华东地区汉族人群中检测肾素基因启动子区的单核苷酸多态(SNPs)及单倍型分布,并探讨其与原发性高血压的关系。方法:应用聚合酶链反应(PCR)直接测序技术检测肾素基因启动子区以明确其SNPs分布。在192例原发性高血压患者(原发性高血压组)及185例健康对照者(对照组)中对所发现的SNPs开展病例-对照关联研究及基因单倍型分析。结果:所测肾素基因启动子区长度为1674bp,共发现5个SNPs,其中RENP/-1475(G/A)、RENP/-1447(T/G)、RENP/-1165(G/A)和RENP/-1135(T/G)几乎呈完全的连锁不平衡。RENP/-1475(G/A)和RENP/-1292(A/G)多态的基因型和等位基因分布在原发性高血压组与对照组之间差异无统计学意义(P>0.05)。被检出的5个SNPs属同一单倍域,产生3种单倍型,各单倍型在原发性高血压组和对照组的分布频率差异亦无统计学意义(P>0.05)。结论:肾素基因启动子区遗传变异可能并不是中国华东地区汉族人群原发性高血压的易感因素。Objective To investigate the distribution of single nucleotide polymorphisms （SNPs） and haplotypes in renin gene promoter region,and further ascertain their relationships with essential hypertension in Chinese South-eastern Han population. Methods PCR-sequencing was performed to identify SNPs and to ascertain the distribution of SNPs. A case-control study was performed in 192 patients with essential hypertension and 185 healthy controls. Results Five SNPs were discovered in renin gene promoter region in length of 1 674 bp. RENP-1475 （G/A） polymorphism was almost in completely linkage disequlibrium with RENP/-1447（T/G）,RENP/-1165（G/A） and RENP/-1135（T/G） polymorphisms. No statistical differences of genotype distributions and allele frequencies were found between essential hypertensive patients and healthy controls （P〉0.05）. The 5 SNPs belonged to a same haploid region and formed 3 haplotypes. Haplotype analysis revealed that there was no significant difference in haplotype distribution between essential hypertension patients and healthy controls （P〉0.05）. Conclusions Hereditary variations in renin gene promoter region may not be the vulnerable factor of essential hypertension in South-eastern Han population.

关 键 词：高血压 肾素基因 单核苷酸多态 单倍型 

分 类 号：R544.1[医药卫生—心血管疾病]