A Polymorphism of the Renin Gene rs6682082 Is Associated with Essential Hypertension Risk and Blood Pressure Levels in Korean Women

• Published in: Yonsei medical journal Vol. 56; no. 1; pp. 227 - 234
• Main Authors: Park, Jongkeun, Song, Kijun, Jang, Yangsoo, Kim Yoon, Sungjoo
• Format: Journal Article
• Language: English
• Published: Korea (South) Yonsei University College of Medicine 01.01.2015; 연세대학교의과대학
• Subjects: Alleles; Asian Continental Ancestry Group - genetics; Blood Pressure - genetics; Case-Control Studies; Diastole - genetics; Essential Hypertension; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Hypertension - genetics; Hypertension - physiopathology; Luciferases - metabolism; Middle Aged; Original; Polymorphism, Single Nucleotide - genetics; Promoter Regions, Genetic - genetics; Renin - genetics; Republic of Korea; Risk Factors; Systole - genetics; Transfection; 의학일반; Republic of Korea; Essential hypertension; association; polymorphism; renin
• ISSN: 0513-5796; 1976-2437; 1976-2437
• 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.