Searchable abstracts of presentations at key conferences in endocrinology

ea0015p325 | Steroids | SFEBES2008

Heritability of plasma aldosterone levels and genetic variation association with the aldosterone synthase (CYP11B2) and 11beta-hydroxylase (CYP11B1) genes

Alvarez-Madrazo Samantha , Padmanabhan Sandosh , Wallace Michael , Campbell Morvern , Friel Elaine , Keavney Bernard , Davies Eleanor , Connell John

Aldosterone plays a key role regulating electrolyte homeostasis and blood pressure. An elevated aldosterone to renin ratio is present in 15% of hypertensive patients but the causes of aldosterone excess are not fully understood. There is evidence of interaction between the polymorphisms in the aldosterone synthase gene (CYP11B2) and aldosterone levels in plasma and urine. However, the most consistent associations between variation at this locus and altered steroid synth...

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...