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

本研究旨在探讨日本人群中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。结果：1.醛固酮合成酶(CYP11B2)基因多态性与血压相关。在日本人群中，-344C/T多态被认为是一个独立的遗传因素，可能与高血压或动脉粥样硬化性疾病有关(Hyperten Res 2004，27：1-6)。11 b-羟基类固醇脱氢酶(11β-HSD2)基因多态性分析显示，日本人群(n=1,245)中11个β-HSD2基因不存在单核苷酸多态。脉压在不同的基因型别之间有显著差异，并且这种关联在老年人群(60岁)中显著(Hyperten Res 2003；26：47-52)。在血管紧张素转换酶I/D多态研究中，我们发现日本普通人群中血管紧张素转换酶I/D多态与高血压的相关性很小(J Hypertens2002；20：1121-6)。3.分析日本人群中上皮性钠通道(βENaC)基因的多态性。结果提示，βENaC基因多态性与血压有关，特别是V434M基因多态性与血钠浓度相关(Am J Hypertens2002；15：189-192，Clin Exp Nephrol 2002；6：130-134)。4.分析最强的血管收缩因子尾加压素II的基因多态性，得到可能与血压相关的结果。5.分析血管扩张剂Urocortin III/Stress Scope in的基因多态性，并获得与白大衣高血压相关的结果。

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).