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...

ea0021p360 | Steroids | SFEBES2009

Replicated association of regions at CYP11B1/B2 locus with hypertension in Caucasians

Alvarez-Madrazo Samantha , Padmanabhan Sandosh , Friel Elaine , MacKenzie Scott , Brown Morris , Caulfield Mark , Munroe Patricia , Farrall Martin , Webster John , Samani Nilesh , Dominiczak Anna , Melander Olle , Davies Eleanor , Connell John

The locus comprising the genes that catalyse the final steps of cortisol and aldosterone synthesis (CYP11B1 and CYP11B2 respectively) is a plausible candidate risk region for hypertension and other cardiovascular diseases. Nevertheless, there remains uncertainty as to the strength of the relationship between polymorphisms at this locus and increased blood pressure. In this study, association with hypertension at the CYP11B1/CYP11B2 locus in a Caucasian cas...