Association of gene polymorphisms of steroid hormone synthetase and steroid hormone converting enzyme with hypertension in the Japanese population

本研究探讨了日本人类固醇激素合成酶和类固醇激素转换酶基因多态性与高血压的关系。此外，还研究了与心血管调节相关的其他基因多态性。结果:1。分析醛固酮合成酶（CYP11B2）基因多态性与血压的关系。-344C/T多态性被认为是日本人群中可能与高血压或动脉粥样硬化疾病相关的独立遗传因素（Hypertens Res 2004,27:1-6）。11 β-HSD2基因多态性分析显示，日本人群（n=1,245） 11 β-HSD2基因不存在SNP。研究了血管紧张素原基因M235T的多态性。脉压在不同基因型之间存在显著差异，且在年龄较大的人群中（60 ~ 60岁）相关性突出（Hypertens Res 2003;26:47-52）。在ACE I/D多态性研究中，我们发现ACE I/D多态性与日本普通人群高血压之间的关系不大（J Hypertens 2002;20:1121-6）。对日本人群上皮钠通道（βENaC）基因多态性进行了分析。3 .结果表明βENaC多态性与血压有关，尤其是V434M多态性与血清钠浓度有关（Am J Hypertens 2002; 15:19 9-192; clinyexp Nephrol 2002;6:130-134）。对最有效的血管收缩剂尿紧张素II的基因多态性进行了分析，结果表明其可能与血压有关（未发表）。研究人员分析了一种有效的血管舒张剂——尿皮质素III/应激蛋白的基因多态性，并获得了与白大衣高血压相关的结果（未发表）。

In the present study, association of gene polymorphisms of steroid hormone synthetase and steroid hormone converting enzyme with hypertension was investigated in Japanese people. In addition, other gene polymorphisms of factors concerning cardiovascular regulation were also investigated.Results :1.Aldosterone synthase (CYP11B2) gene polymorphism was analyzed in association with blood pressure. -344C/T polymorphism was considered an independent genetic factor possibly associated with hypertension or atherosclerotic diseases in the Japanese population (Hypertens Res 2004, 27:1-6). Analysis of 11 b-hydroxysteroid dehydrogenase (11 β-HSD2) gene polymorphism revealed that no SNP existed in 11 β-HSD2 gene in the Japanese population (n=1,245).2.The angiotensinogen gene polymorphism M235T was investigated. Pulse pressure was significantly different among the genotypes, and the association was prominent in the older population (age>60) (Hypertens Res 2003;26:47-52). In ACE I/D polymorphism study, we found that there was little association between ACE I/D polymorphism and hypertension in the general Japanese population (J Hypertens 2002;20:1121-6).3.The epithelial sodium channel (βENaC) gene polymorphism was analyzed in the Japanese population. The results suggested that βENaC polymorphism had an association with blood pressure and especially V434M polymorphism associated with serum sodium concentration (Am J Hypertens 2002;15:189-192, Clin Exp Nephrol 2002;6:130-134).4.Gene polymorphism of urotensin II, the most potent vasoconstrictor, was analyzed, and the results suggesting a possible association with blood pressure were obtained (unpulished).5.Gene polymorphism of urocortin III/stresscopin, a potent vasodilator, was analyzed, and the results suggesting an association with white coat hypertension were obtained (unpulished).