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...

ea0003p159 | Genetics | BES2002

Single nucleotide polymorphisms of the beta2-adrenergic receptor (ADRB2) gene and hypertension

Brain N , Tomaszewski M , Lacka B , Charchar F , Wang W , Padhmanaban S , Anderson N , Zukowska-Szczechowska E , Grzeszczak W , Dominiczak A

Objective: Three nonsynonomous SNPs, Arg16Gly, Gln27Glu and Thr164Ile, in the coding region of the ADRB2 gene affect either receptor affinity or trafficking. Their distribution has been shown to differ significantly in hypertension. We investigated the association of these loci with hypertension in the Silesian Hypertension Study.Methods: Following local ethics approval, 274 unrelated Polish subjects consisting of 146 hypertensives and 128 normotensives ...