title: Role of genetic variation in regulation of aldosterone biosynthesis.
abstract: Aldosterone biosynthesis is not only altered in rare mendelian disorders. Recent evidence suggests that common polymorphisms in the genes mediating the final stages of aldosterone and cortisol production (CYP11B1 and CYP11B2 respectively) are also associated with milder alterations in adrenal corticosteroid biosynthesis. These abnormalities consist of a decrease in adrenal 11β- hydroxylase activity and a subtle, life-long excess of aldosterone secretion which may lead to long-term cardiovascular risks. An interaction between the CYP11B1 and CYP11B2 genes may exist but is yet to be elucidated. This article describes the studies which highlight the importance of adrenal steroid synthesis in the development of hypertension and cardiovascular dysfunction as well as the role of common polymorphisms in adrenal synthetic genes in altering corticosteroid biosynthesis.
authors.forename: Samantha
authors.initials: S
authors.lastname: Alvarez-Madrazo
authors.forename: John M
authors.initials: JM
authors.lastname: Connell
authors.forename: E Marie
authors.initials: EM
authors.lastname: Freel
mesh_terms: D000450:Aldosterone / Q000096:biosynthesis*; D000818:Animals; D002318:Cardiovascular Diseases / Q000235:genetics / Q000378:metabolism; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D014644:Genetic Variation / Q000502:physiology*; D006801:Humans; D006973:Hypertension / Q000235:genetics / Q000378:metabolism; D015810:Linkage Disequilibrium; D008954:Models, Biological; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics / Q000378:metabolism / Q000502:physiology
chemical_list: D000450:Aldosterone; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase