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

血压由多种机制控制。众所周知，肾上腺产生的类固醇激素，如醛固酮，是很重要的。与醛固酮产生有关的基因改变可能会导致高血压。众所周知，高血压患者在控制醛固酮合成的某些基因上存在变异，但这种变化是如何导致高血压和心血管疾病风险增加的确切原因尚不清楚。这项研究旨在更密切地观察影响醛固酮合成的基因的具体变化，并将这些变化与激素产生的增加联系起来。我将通过多种方式来做这项工作，包括在分子水平上检查实验室环境中的影响，在人类肾上腺组织中(从需要摘除肾上腺的患者身上获得)，以及在高血压患者中的影响，我们可以研究他们的基因和临床特征。

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.