Searchable abstracts of presentations at key conferences in endocrinology

ea0011p306 | Diabetes, metabolism and cardiovascular | ECE2006

The variable number of tandem repeat polymorphism in the NOS3 gene is associated with arterial compliance and insulin resistance in coronary artery disease

Drummond RS , Koh-Tan HHC , Brain NJR , Kirk A , Sattar N , Connell JMC , Dominiczak AF

A common NOS3 polymorphism (the gene which encodes endothelial nitric oxide synthase), a variable number of tandem repeats within Intron 4 has been associated with cardiovascular disorders in which nitric oxide bioactivity is impaired including myocardial infraction. Consistent characteristic changes in the pressure pulse wave shape have been associated with ageing, risk factors for cardiovascular disease and impaired NO bioactivity. Therefore pulse waveform analysis can be ut...

ea0011p305 | Diabetes, metabolism and cardiovascular | ECE2006

A gene gene interaction of single nucleotide polymorphisms within two oxidative stress genes affects arterial compliance in patients with coronary artery disease

Drummond RS , Koh-Tan HHC , Brain NJR , McClure JD , Cherry LM , Kirk AJB , Sattar N , Connell JMC , Dominiczak AF

We hypothesised that SNPs within oxidative stress genes influence vascular compliance in patients with coronary artery disease.A SNP within the gene encoding the eNOS (NOS3) which encodes a Glu298→Asp amino acid substitution has been associated with cardiovascular disorders in which NO bioactivity is impaired. The gene coding for p22phox, a critical component of the NADH/NAD(P)H oxidase enzyme system, a major source of vascular SO, is CYB...

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...