Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc44 | Endocrine genetics | ECE2006

Functional impact of polymorphic variation in the gene encoding 11β-hydroxylase (CYP11B1): reduced adrenal 11-hydroxylase efficiency identifies a key intermediate phenotype in hypertension

Barr M , Friel E , MacKenzie SM , Holloway CD , Freel EM , Brain NJR , Wilkinson DM , Ingram M , Fraser R , Dominiczak AF , Connell JMC , Davies E

The regulation of aldosterone secretion is altered in essential hypertension: the phenotype of relative aldosterone excess is present in up to 15% of subjects. The gene encoding aldosterone synthase (CYP11B2) offers an obvious candidate to account for this and a polymorphism in its 5′ untranslated region (UTR; −344C/T) is associated with increased frequency of hypertension and higher aldosterone levels. However, this variation is more closely associated with...