Aldosterone synthase gene in patients suffering from hyperaldosteronism

In this study the known promoter region of P450aldo gene (CYP11B2) was inve stigated in patients with idiopathic hyperaldosteronism, a disease characte rised by hypertension due to aldosterone oversecretion. We amplified the 2. 2 kb promoter region of 6 patients and 7 controls from the same ethnic popu lation by PCR and sequenced the product. Thirteen polymorphic sites were fo und. Of the most significant, one was within a predicted CRE and another pr eviously described polymorphic site was located in a putative SF-1 binding site. To elucidate the allelic distribution of the polymorphisms, the PCR p roducts were cloned and both alleles for each patient were sequenced. As th e same alleles and allele combinations were found in hypertensive patients as well as in normal subjects, it was concluded that none of the polymorphi sms was responsible for hyperaldosteronism.