Article
Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency.
Hypertension (Dallas, Tex. : 1979) - 1 Jan 2007
Barr Marianne, MacKenzie Scott M, Friel Elaine C, Holloway Christine D, Wilkinson Donna M, Brain Nick J R, Ingram Mary C, Fraser Robert, Brown Morris, Samani Nilesh J, Caulfield Mark, Munroe Patricia B, Farrall Martin, Webster John, Clayton David, Dominiczak Anna F, Connell John M C, Davies Eleanor
Abstract excerpt
The -344 C/T and intron 2 conversion variants in the CYP11B2 gene, encoding aldosterone synthase, have been associated with markers of impaired 11beta-hydroxylase activity. We hypothesize that this association is because of variations in the adjacent 11beta-hydroxylase gene (CYP11B1) and arises through linkage disequilibrium between CYP11B1 and CYP11B2. The pattern of variation across the entire CYP11B locus was...
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