醛固酮合成酶基因-344T／C多态性与高血压病早期肾损害的关联研究  

Association of aldosterone synthase gene - 344 T/C polymorphism with early renal damage in Han nationality with essential hypertension

作　　者：孙晓健[1] 刘少荣[1] 张传焕[1] 袁国会[1] 陈红英[1] 侯晓菲[2] 

机构地区：[1]青岛大学医学院附属烟台毓璜顶医院心内科,烟台市264000 [2]青岛大学医学院附属烟台毓璜顶医院肾病实验室,烟台市264000

出　　处：《中华医学遗传学杂志》2007年第2期153-156,共4页Chinese Journal of Medical Genetics

基　　金：烟台市科技发展计划项目基金（2002113）

摘　　要：目的研究醛固酮合成酶基因-344T／C多态性是否与汉族人原发性高血压患者早期肾损害关联。方法放射免疫法检测225例1、2级原发性高血压患者24h尿白蛋白含量和血浆醛固酮浓度，24h尿白蛋白〈30mg判为正常白蛋白尿组，24h尿白蛋白在30～300mg为微量白蛋白尿组；聚合酶链反应．限制性片段长度多态性技术检测225例高血压患者和135名正常对照醛固酮合成酶基因-344T／C多态性。结果对照组、原发性高血压白蛋白尿正常组和微量白蛋白尿组之间TT、TC和CC3种基因型分布差异无统计学意义（P〉0．05）；3组之间比较T、C等位基因频率分布差异有统计学意义，与对照组、原发性高血压白蛋白尿正常组比较，微量白蛋白尿组C等位基因频率显著增高（P〈0．05）。与非C等位基因携带者相比较，C等位基因携带者血浆醛固酮浓度显著升高，24h尿白蛋白排泄量显著增加（P〈0．05）。结论醛固酮合成酶基因-344T／C多态性与汉族人原发性高血压患者早期肾损害关联，C等位基因可能是原发性高血压患者合并早期肾损害的遗传易感因子。Objective To investigate whether the - 344T/C polymorphism of aldosterone synthase gene is associated with early renal damage in Han nationality with essential hypertension in Shandong province. Methods Plasma aldostemne concentration and urinary albumin excretion were measured with radioimmunoassays in 225 patients with essential hypertension, and hypertensives were classfied as hypertension with normal albuminuria or hypertension with microalbuminuria according to urinary albumin excretion during 24 hours. - 344T/C polymorphism of aldosterone synthase gene was determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in controls and hypertensives. Results No significant differences was found in genotype distribution among groups of control, primary hypertension with normal albuminuria and hypertension with microalbuminuria. The C allele frequency in hypertension with microalbuminuria group was significantly higher than that in control and hypertension with normal albuminuria group （ P 〈 0.05）. In hypertensive patients, plasma aldostemne concentration and urinary albumin excretion of TC ＋ CC genotypes were significantly higher than that of rlT genotype （ P 〈 0.05）. Conclusion These results suggest that - 344T/C polymorphism of aldosterone synthase gene may be associated with early renal damage in Han nationality with essential hypertension, C allele may be a genetic factor susceptible to renal damage in hypertensives.

关 键 词：醛固酮合成酶基因 高血压病 肾损害 微量白蛋白尿 

分 类 号：R686[医药卫生—骨科学]