Variation at the Aldosterone Synthase (CYP11B2) Locus Contributes to Hypertension in Subjects with a Raised Aldosterone-to-Renin Ratio

• DOI: 10.1210/jc.2001-012070
• Publication Date: 2002-09-05T17:22:39Z
• Authors: Pitt O. Lim; Thomas M. Macdonald; Christine Holloway; Elaine Friel; Niall H. Anderson; Eleanor Dow; Roland T. Jung; Eleanor Davies; Robert Fraser; John M. C. Connell
• Keywords: Aldosterone synthase; Hyperaldosteronism; Steroid 11-beta-hydroxylase

The aldosterone-to-renin ratio (ARR) is a marker of aldosterone activity in hypertension. We examined the relationship ARR to distribution two biallelic polymorphisms at CYP11B2 gene locus. One polymorphism affects putative steroidogenic factor-1 binding site (−344 T/C) 5′-regulatory region, whereas other reflects replacement intron-2 from with that neighboring encoding 11β-hydroxylase (CYP11B1; wild-type/conversion). studied consecutive referrals Tayside hypertension clinic 1998. Because specificity (pmol/liter/ng/ml/h) for hyperaldosteronism increases its threshold, ARRs least 750 and 1000 were used. A total 375 patients assessed; 86.9% had complete data. There significant excesses (T) (ARR ≥ 750, 0.62 vs. 0.51, P = 0.014; 1000, 0.63 0.039) (conversion) 0.49 0.41, 0.205; 0.54 0.029) alleles raised ARR. odds was 2.27 [95% confidence interval, 1.01, 5.09; < 0.05] comparing homozygous haplotype these those without any such alleles, this risk increased age. This study supports notion there genetic component regulates production might develop over time susceptible individuals.