Hautanena A, Lankinen L, Kupari M, Jänne O A, Adlercreutz H, Nikkilä H, White P C
Department of Medicine, Helsinki University Central Hospital, Institute of Biomedicine, University of Helsinki, Finland.
J Intern Med. 1998 Jul;244(1):11-8. doi: 10.1046/j.1365-2796.1998.00308.x.
Two diallelic polymorphisms, one in the transcriptional regulatory region (promoter) and the other in the second intron, have been identified in the aldosterone synthase (CYP11B2) gene encoding aldosterone synthase, the enzyme catalysing the last steps of aldosterone biosynthesis. We have examined the associations between these genetic variations and adrenocortical function in a cohort of Finnish males.
A cross-sectional study.
Helsinki University Central Hospital, Finland.
Ninety-two males aged 30-55 years.
Basal adrenocortical function was assessed by measuring urinary excretion of aldosterone and cortisol. Functional activity was determined by responses of several adrenal steroids to dexamethasone suppression followed by ACTH stimulation. Polymerase chain reactions were used to identify the polymorphisms in the CYP11B2 gene.
The -344TT genotype group in the CYP11B2 promoter had lower systolic blood pressures (P=0.039), but higher urinary aldosterone excretion (P=0.016), and 11-deoxycortisol responses to ACTH stimulation (P=0.021) than the-344CC genotype group. Urinary aldosterone excretion (P=0.033), 11-deoxycortisol (P=0.026), and aldosterone (P=0.013) responses to ACTH were higher in the intron 2 conversion than the nonconversion genotype groups.
Polymorphisms in or near the aldosterone synthase gene are associated with variations in aldosterone and 11-deoxycortisol production in males. This may modulate the activity of the renin-angiotensin system and thereby contribute to blood pressure regulation.
在编码醛固酮合酶（催化醛固酮生物合成最后几步的酶）的醛固酮合酶（CYP11B2）基因中，已鉴定出两个双等位基因多态性，一个位于转录调控区（启动子），另一个位于第二内含子。我们在一组芬兰男性中研究了这些基因变异与肾上腺皮质功能之间的关联。
横断面研究。
芬兰赫尔辛基大学中心医院。
92名年龄在30 - 55岁的男性。
通过测量醛固酮和皮质醇的尿排泄量来评估基础肾上腺皮质功能。通过几种肾上腺类固醇对地塞米松抑制后促肾上腺皮质激素刺激的反应来确定功能活性。采用聚合酶链反应来鉴定CYP11B2基因中的多态性。
CYP11B2启动子中的 - 344TT基因型组的收缩压较低（P = 0.039），但尿醛固酮排泄量较高（P = 0.016），且对促肾上腺皮质激素刺激的11 - 脱氧皮质醇反应较高（P = 0.021），高于 - 344CC基因型组。内含子2转换基因型组对促肾上腺皮质激素的尿醛固酮排泄量（P = 0.033）、11 - 脱氧皮质醇（P = 0.026）和醛固酮（P = 0.013）反应高于非转换基因型组。
醛固酮合酶基因或其附近的多态性与男性醛固酮和11 - 脱氧皮质醇产生的变化有关。这可能调节肾素 - 血管紧张素系统的活性，从而有助于血压调节。
