Pathological Significance of Gene Polymorphisms of the Renin-Angiotensin System in Hypertension.

肾素-血管紧张素系统（RAS）在血压和局部血流的调节中起着重要作用。RAS的3个主要成分血管紧张素原、血管紧张素转换酶（ACE）和血管紧张素II 1型受体（AT 1 R）的基因多态性已被认为是高血压及其并发症的可能遗传标记。高血压和高血压心血管疾病的死亡率和发病率在青森人口中很高。因此，我们试图确定在高血压和正常血压的受试者生活在青森县的这些组件的显着的3个基因变异的患病率。终末期肾病（ESRD）患者和脑血管疾病患者也入组本研究。血管紧张素原M235 T和ACE I/D基因多态性与高血压呈正相关。而AT 1 R A1166 C多态性在高血压组和正常血压组之间不存在不平衡。ACE I/D也与脑血管疾病相关，但与ESRD无关。这些结果表明，血管紧张素原M235 T和ACE I/D变异体可能是高血压的遗传易感因素，ACE I/D可能进一步促进脑血管疾病作为青森人群的遗传标记。

The renin-angiotensin system (RAS) plays an important role in the regulation of blood pressure and regional blood flow. Gene polymorphisms of 3 major components of the RAS, angiotensinogen, angiotensin converting enzyme (ACE) , and angiotensin II type 1 receptor (AT1R) have been raised as possible genetic markers for hypertension and its complications. The mortality and morbidity of hypertension and hypertensive cardiovascular diseases are high in the Aomori population. Therefore, we tried to identify the prevalence of significant 3 gene variants of those components in hypertensive and normotensive subjects living in Aomori prefecture. Patients with end-stage renal disease (ESRD) and patients with cerebrovascular diseases were also enrolled in this study. Positive linkages were identlfied between hypertension and 2 gene polymorphisms including angiotensinogen M235T and ACE I/D. However, disequilibriums in AT1R A1166C polyrrmorphism was absent between hypertensive and normotensive groups. ACE I/D was also associated with cerebrovascular diseases, but not with ESRD.These results suggest that the angiotensinogen M235T and ACE I/D variants may be genetic-susceptibility factors for hypertension and that ACE I/D may further contribute to cerebrovascular diseases as a genetic marker in the Aomori population.