Song Se-Bin, Jin Hyun-Seok, Hong Kyung-Won, Lim Ji-Eun, Moon Ju-Young, Jeong Kyung-Hwan, Ihm Chun-Gyoo, Lee Tae-Won, Oh Bermseok, Lee Sang-Ho
Department of Nephrology, Kyung Hee University, Seoul, Korea.
Blood Press. 2011 Aug;20(4):204-10. doi: 10.3109/08037051.2011.555074. Epub 2011 Feb 23.
AIMS. Blood pressure control is influenced by various genetic and environmental factors, and genetic susceptibility is important in the development of essential hypertension. Because the renin-angiotensin-aldosterone system (RAAS) has a key role in vasoconstriction, vasodilation, and sodium and electrolyte balance, it is central in blood pressure control and so is an appropriate target in hypertension treatments. The present study assessed the association of RAAS-related genes with blood pressure and hypertension in a Korean population. Single nucleotide polymorphisms (SNPs, n = 114) in nine RAAS-related genes (AGT, REN, ACE, ACE2, AGTR1, CYP11B2, NR3C2, MAS1, and CMA1) were assessed for their correlation with blood pressure and hypertension using genotype data of 8842 individuals from the Korea Association Resource subject pool. MAJOR FINDINGS. Linear regression analysis revealed a statistically significant association with blood pressure of 10 SNPs in six genes (ACE, ACE2, CYP11B2, NR3C2, MAS1, and CMA1). An additional hypertension case-control study identified 10 SNPs in NR3C2 and ACE that were linked to hypertension. PRINCIPAL CONCLUSION. Three SNPs (rs11737660, rs6810951, and rs10519963) in NR3C2 correlate with both blood pressure and hypertension. Genetic polymorphisms in RAAS-related genes appear to be associated with hypertension in a Korean population.
目的。血压控制受多种遗传和环境因素影响，遗传易感性在原发性高血压的发生发展中起重要作用。由于肾素 - 血管紧张素 - 醛固酮系统（RAAS）在血管收缩、血管舒张以及钠和电解质平衡中起关键作用，它在血压控制中至关重要，因此是高血压治疗的合适靶点。本研究评估了韩国人群中RAAS相关基因与血压及高血压的关联。利用韩国协会资源受试者库中8842名个体的基因型数据，评估了9个RAAS相关基因（AGT、REN、ACE、ACE2、AGTR1、CYP11B2、NR3C2、MAS1和CMA1）中的单核苷酸多态性（SNP，共114个）与血压及高血压的相关性。主要发现。线性回归分析显示，6个基因（ACE、ACE2、CYP11B2、NR3C2、MAS1和CMA1）中的10个SNP与血压存在统计学显著关联。另外一项高血压病例对照研究发现，NR3C2和ACE中的10个SNP与高血压有关。主要结论。NR3C2中的3个SNP（rs11737660、rs6810951和rs10519963）与血压和高血压均相关。RAAS相关基因的遗传多态性在韩国人群中似乎与高血压有关。
