Park Jongkeun, Song Kijun, Jang Yangsoo, Kim Yoon Sungjoo
Department of Medical Life Science, The Catholic University of Korea, Seoul, Korea.
Department of Biostatistics, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 2015 Jan;56(1):227-34. doi: 10.3349/ymj.2015.56.1.227.
The aim of the present study was to investigate associations between the renin gene (REN) and the risk of essential hypertension and blood pressure (BP) levels in Koreans.
To outline the functional role of a single nucleotide polymorphism in the transcription of the REN gene, we conducted a case-control study of 1975 individuals: 646 hypertension (HT) patients and 1329 ethnically and age-matched normotensive subjects.
Logistic regression analysis indicated that the genotypes AA/AG were strongly associated with risk of HT (odds ratio, 1.493; 95% confidence interval, 1.069-2.086, p=0.018) in female subjects. The genotypes AA/AG also showed significant association with higher blood pressure levels, both systolic and diastolic, in postmenopausal HT women (p=0.003 and p=0.017, respectively). Analysis of the promoter containing rs6682082 revealed a 2.4±0.01-fold higher activity in the A variant promoter than the G variant promoter, suggesting that rs6682082 is itself a functional variant.
We suggest that the A allele of rs6682082 is a positive genetic marker for predisposition to essential hypertension and high BP in Korean women and may be mediated through the transcriptional activation of REN.
本研究旨在调查韩国人群中肾素基因（REN）与原发性高血压风险及血压水平之间的关联。
为了概述单核苷酸多态性在REN基因转录中的功能作用，我们对1975名个体进行了病例对照研究，其中包括646名高血压（HT）患者和1329名种族及年龄匹配的血压正常受试者。
逻辑回归分析表明，在女性受试者中，基因型AA/AG与HT风险密切相关（比值比，1.493；95%置信区间，1.069 - 2.086，p = 0.018）。在绝经后HT女性中，基因型AA/AG还与收缩压和舒张压水平升高显著相关（分别为p = 0.003和p = 0.017）。对包含rs6682082的启动子分析显示，A变体启动子的活性比G变体启动子高2.4±0.01倍，表明rs6682082本身是一个功能变体。
我们认为，rs6682082的A等位基因是韩国女性原发性高血压和高血压易感性的阳性遗传标记，可能通过REN的转录激活介导。
