Searchable abstracts of presentations at key conferences in endocrinology

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...