Variation in promoter function in CYP11B2 and regulation of aldosterone secretion in cardiovascular disease

血压由多种机制控制。已知肾上腺产生的类固醇激素如醛固酮是重要的。参与醛固酮生成的基因的改变可能导致高血压。众所周知，高血压患者在控制醛固酮合成的某些基因中存在变异，但尚不清楚这种变化如何产生高血压的临床表现和心血管疾病风险增加。这项研究的目的是更密切地关注影响醛固酮合成的基因的特定变化，并将这些变化与增加激素的产生联系起来。我将通过多种方式进行研究，包括在分子水平上研究实验室环境中的影响，在人类肾上腺组织中（从需要切除肾上腺的患者中获得），以及在高血压患者中，我们可以研究其基因和临床特征。

Blood pressure is controlled by a variety of mechanisms. Steroid hormones such as aldosterone, produced by the adrenal gland, are known to be important. Alterations in genes involved in the production of aldosterone may lead to high blood pressure. It is known that patients with high blood pressure have a variation in certain genes which control aldosterone synthesis but it is not clear exactly how this change produces the clinical picture of hypertension and increased risk of cardiovascular disease. This study aims to look more closely at specific changes in genes affecting aldosterone synthesis and relate these to increased production of the hormone. I will do this in a variety of ways including examining the effects in the laboratory environment at a molecular level, in human adrenal tissue (obtained from patients who have required to have their adrenal glands removed), and in patients with hypertension whose genes and clinical characteristics we can study.