Searchable abstracts of presentations at key conferences in endocrinology

ea0034oc3.5 | Steroids | SFEBES2014

Linking GWAS to gene function: CYP17A1 in hypertension

Diver Louise , MacKenzie Scott , McManus Frances , Freel Marie , Friel Elaine , Fraser Robert , Hanley Neil , Connell John , Davies Eleanor

Recent genome-wide association studies (GWAS) implicate the CYP17A1 locus in human blood pressure regulation. This gene is important in steroidogenesis, regulating both glucocorticoid and androgen synthesis through catalysis of 17α-hydroxylation and 17,20 lyase reactions. We hypothesised that functional CYP17A1 polymorphisms linked to those identified by GWAS influence blood pressure levels. We therefore screened the entire CYP17A1 locus by dire...

ea0015p325 | Steroids | SFEBES2008

Heritability of plasma aldosterone levels and genetic variation association with the aldosterone synthase (CYP11B2) and 11beta-hydroxylase (CYP11B1) genes

Alvarez-Madrazo Samantha , Padmanabhan Sandosh , Wallace Michael , Campbell Morvern , Friel Elaine , Keavney Bernard , Davies Eleanor , Connell John

Aldosterone plays a key role regulating electrolyte homeostasis and blood pressure. An elevated aldosterone to renin ratio is present in 15% of hypertensive patients but the causes of aldosterone excess are not fully understood. There is evidence of interaction between the polymorphisms in the aldosterone synthase gene (CYP11B2) and aldosterone levels in plasma and urine. However, the most consistent associations between variation at this locus and altered steroid synth...

ea0021p360 | Steroids | SFEBES2009

Replicated association of regions at CYP11B1/B2 locus with hypertension in Caucasians

Alvarez-Madrazo Samantha , Padmanabhan Sandosh , Friel Elaine , MacKenzie Scott , Brown Morris , Caulfield Mark , Munroe Patricia , Farrall Martin , Webster John , Samani Nilesh , Dominiczak Anna , Melander Olle , Davies Eleanor , Connell John

The locus comprising the genes that catalyse the final steps of cortisol and aldosterone synthesis (CYP11B1 and CYP11B2 respectively) is a plausible candidate risk region for hypertension and other cardiovascular diseases. Nevertheless, there remains uncertainty as to the strength of the relationship between polymorphisms at this locus and increased blood pressure. In this study, association with hypertension at the CYP11B1/CYP11B2 locus in a Caucasian cas...