Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/17444
Title: Phenotypic consequences of variation across the aldosterone synthase and 11-beta hydroxylase locus in a hypertensive cohort: data from the MRC BRIGHT Study.
Authors: Freel, EM
Ingram, M
Friel, EC
Fraser, R
Brown, M
Samani, NJ
Caulfield, M
Munroe, P
Farrall, M
Webster, J
Clayton, D
Dominiczak, AF
Davies, E
Connell, JM
First Published: Dec-2007
Citation: CLIN ENDOCRINOL (OXF), 2007, 67 (6), pp. 832-838
Abstract: Aldosterone is an important cardiovascular hormone; 15% of hypertensive subjects have alteration in aldosterone regulation, defined by a raised ratio of aldosterone to renin (ARR). Studies of the aldosterone synthase gene (CYP11B2) have focused on a single nucleotide polymorphism in the 5'promoter region (-344 C/T). In normotensive subjects, the T allele associates with raised levels of the 11-deoxysteroids, deoxycorticosterone and 11-deoxycortisol which are substrates for 11beta-hydroxylase, encoded by the adjacent and homologous gene, CYP11B1. We have speculated that this altered 11beta-hydroxylase efficiency leads to increased ACTH drive to the adrenal gland to maintain cortisol production and reported herein the association between the -344 C/T single nucleotide polymorphism (SNP) and adrenal steroid production in subjects with essential hypertension.
DOI Link: 10.1111/j.1365-2265.2007.02971.x
eISSN: 1365-2265
Links: http://hdl.handle.net/2381/17444
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Cardiovascular Sciences

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