Searchable abstracts of presentations at key conferences in endocrinology

ea0009p134 | Steroids | BES2005

Haplotype analysis of the aldosterone synthase (CYP11B2) and 11beta-hydroxylase gene (CYP11B1) locus

Barr M , Wilkinson D , Freel E , MacKenzie S , Brain N , Fraser R , Davies E , Connell J

We have shown that linked polymorphisms in the aldosterone synthase gene (CYP11B2) are associated with hypertension and altered aldosterone production. However, the most consistent intermediate phenotype associated with this genetic variation is increased plasma 11-deoxycortisol (S) and urinary excretion of its metabolite, tetrahydrodeoxycortisol (THS); this is paradoxical as S is a substrate for the enzyme 11beta-hydroxylase, encoded by the neighbouring gene, CYP11B1. However...

ea0009oc31 | Oral Communication 4: Steroids | BES2005

Functional effects of mutations in the 11beta-hydroxylase (CYP11B1) gene

Barr M , Wilkinson D , Holloway C , Miller S , MacKenzie S , Kazi S , Fraser R , Connell J , Davies E

Up to 15% of unselected patients with hypertension have evidence of inappropriate aldosterone production, identified by a raised ratio of plasma aldosterone to renin (ARR), suggesting that altered regulation of aldosterone synthesis is a key intermediate phenotype in essential hypertension. We previously described an association between the -344C/T 5'UTR polymorphism in the CYP11B2 (aldosterone synthase) gene and hypertension with raised ARR; the same genetic variation associa...

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...