Article
Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene.
Clinical endocrinology - 1 Dec 2006
Barr Marianne, MacKenzie Scott M, Wilkinson Donna M, Holloway Christine D, Friel Elaine C, Miller Stephen, MacDonald Tom, Fraser Robert, Connell John M C, Davies Eleanor
Abstract excerpt
OBJECTIVE: We previously described an association between the -344C/T 5'-untranslated region (UTR) polymorphism in the CYP11B2 (aldosterone synthase) gene and hypertension with a raised aldosterone to renin ratio (ARR); the same genetic variant is also associated with impaired adrenal 11beta-hydroxylase efficiency. The -344 polymorphism does not seem to be functional, so is likely to be in linkage with variants...
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