Open AccessAPEX1 Regulation of Aldosterone Synthase Gene Transcription Is Disrupted by a Common Polymorphism in Humans
Author(s) -
Frances McManus,
William A. Sands,
Louise A Diver,
Scott M. MacKenzie,
Robert Fraser,
Eleanor Davies,
John Connell
Publication year - 2012
Publication title -
circulation research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.899
H-Index - 336
eISSN - 1524-4571
pISSN - 0009-7330
DOI - 10.1161/circresaha.111.262931
Subject(s) - biology , aldosterone synthase , transcription (linguistics) , repressor , gene , transcriptional regulation , genetics , microbiology and biotechnology , promoter , gene expression , endocrinology , philosophy , blood pressure , renin–angiotensin system , linguistics
The genetic mechanisms underlying hypertension are unclear, but relative aldosterone excess, present in ≈10% of hypertensive patients, is known to be a heritable trait. This phenotype associates with a T/C single nucleotide polymorphism (SNP) at position -344 of the aldosterone synthase gene (CYP11B2). However, deletion of this SNP has no effect on gene transcription. We have identified another T/C SNP at -1651, in tight linkage disequilibrium with the -344 SNP and here investigate its functional effect on CYP11B2 transcription.
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