Searchable abstracts of presentations at key conferences in endocrinology

ea0021p348 | Steroids | SFEBES2009

−344 C/T polymorphism of aldosterone synthase gene (CYP11B2) and cortisol synthesis in heart failure patients

Tsorlalis Ioannis , Fraser Robert , Jackson Colette , Ingram Mary , Holloway Christine , McMurray John , Connell John

Background: Increased levels of cortisol are associated with worse prognosis in heart failure (HF). The final step in cortisol production is catalysed by 11β-hydroxylase encoded by CYP11B1, which is highly homologous with CYP11B2. A common polymorphism in the aldosterone synthase gene (CYP11B2 −344T) is associated with a raised ratio of 11-deoxycortisol/ cortisol (S/F). We examined the relationship between −344C/T polymorphism and corticos...

ea0013oc30 | Neuroendocrinology, reproduction and cardiovascular | SFEBES2007

Consequences of variation in the CYP11B2 and CYP11B1 genes on hypothalamic-pituitary-adrenal axis activity

Freel E Marie , White Ann , Ingram Mary , Fraser Robert , Davies Eleanor , Connell John

Aldosterone is key in the development of hypertension. We have shown that a SNP (−344T) in the 5’ regulatory region (UTR) of the gene encoding aldosterone synthase (CYP11B2) was associated with aldosterone excess and high blood pressure. However, the most robust phenotype is altered adrenal 11-hydroxylation efficiency (deoxycortisol to cortisol); a step carried out by 11β-hydroxylase, encoded by the adjacent gene, CYP11B1. We proposed that the effects of CYP11B...

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...