Searchable abstracts of presentations at key conferences in endocrinology

ea0013p275 | Steroids | SFEBES2007

Genetic variation at the CYP11B locus accounts for heritabilities of aldosterone excretion and 11-beta hydroxylase activity

Freel E Marie , Imrie Helen , Avery Peter , Ingram Mary , Mayosi Bongani , Farrall Martin , Watkins Hugh , Fraser Robert , Davies Eleanor , Connell John , Keavney Bernard

Aldosterone is a key cardiovascular hormone: 15% of hypertensives have altered aldosterone regulation, defined by a raised ratio of aldosterone to renin. However, the causes of aldosterone excess are not understood. Polymorphic variation in the gene encoding aldosterone synthase (CYP11B2) is associated with hypertension, but the most robust phenotype is a relative reduction in efficiency of 11ß-hydroxylation (conversion of deoxycortisol to cortisol), which reflects functi...