醛固酮合成酶基因-344T/C多态性与山东省汉族人原发性高血压相关性  

Associations between CYP11B2 gene -344T/C polymorphism and essential hypertension in the Han nationality in Shandong province*

作　　者：孙晓健[1] 侯晓菲[2] 刘少荣[1] 刘文波[1] 陶志刚[1] 李建远[3] 

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264000 [3]青岛大学医学院附属烟台毓璜顶医院中心实验室,烟台264000

出　　处：《中华医学遗传学杂志》2004年第5期502-504,共3页Chinese Journal of Medical Genetics

基　　金：烟台市科技发展计划项目基金 (2 0 0 2 1 1 3)~~

摘　　要：目的　研究醛固酮合成酶基因 - 344 T/ C多态性是否与山东省汉族人原发性高血压相关。方法　放免法检测山东省 14 7例原发性高血压患者血浆肾素活性 (plasma renin activity,PRA)和醛固酮浓度 (plasma aldosterone concentration,PAC) ,以 PAC/ PRA比值将高血压患者分为低肾素、正常肾素或高肾素组 ;聚合酶链反应 -限制性片段长度多态性技术检测高血压 (14 7例 )和对照组 (110名 )醛固酮合成酶基因 - 344 T/ C多态性 ,χ2 检验比较各组基因型和等位基因频率。结果　对照组与原发性高血压组之间基因型和等位基因频率差异无显著性 ;对照组与正常或高肾素组之间基因型和等位基因频率差异亦无显著性。低肾素组 C等位基因频率显著高于对照组和正常或高肾素组 (P<0 .0 5 )。结论　醛固酮合成酶基因 -344 T/ C多态性与山东省汉族人低肾素型原发性高血压存在相关性。Objective To investigate whether the -344T/C polymorphism of CYP11B2 gene is associated with essential hypertension in the Hans in Shandong province. Methods Plasma renin activity(PRA) and plasma aldosterone concentration(PAC) were measured with radioimmunoassays; the hypertensives were classfied as low-renin and normal- or high-renin group by PAC/ PRA ratio. -344T/C polymorphism was determined by polymerase chain reaction-restricted fragment length polymorphism(PCR-RFLP) in controls and hypertensives. Results No significant differences were found in genotype distribution or allele frequency between groups of control and primary hypertension or between groups of control and normal- or high-renin hypertension. The C allele frequency in low-renin hypertension group was significantly higher than that in normortensives and normal- or high-renin hypertension group(P<0 05). Conclusion These results suggest that -344T/C polymorphism of CYP11B2 gene may be associated with low-renin essential hypertension in the Han nationality in Shandong province.

关 键 词：醛固酮合成酶基因 多态性 原发性高血压 低肾素 

分 类 号：R544.1[医药卫生—心血管疾病]