Figure 1

(a) Schematic overview of the human mineralocorticoid receptor (MR) gene with its respective 5′ haplotypes and haplotype frequencies. Three haplotypes along a stretch of 4 kb of the 5′ untranslated region were identified based on the genotypes of 50 anonymous DNA samples and include eight single-nucleotide polymorphisms (SNPs). The positioning and relation with the -2G/C (rs2070951) and I180 V (rs5522, control SNPs in grey) SNPs are indicated, which tag these three most common haplotypes. The haplotypes are not linked to common SNPs more 3′ in the MR gene sequence, as a recombination hotspot exists in intron 2 (asterisk). (b) Mean activity (±s.e.m., N=6) of the human MR promoter region associated with haplotype 1, 2 or 3. The figure shows representative results (of three independent experiments with two distinct sets of plasmid isolates) on the comparison of promoter activities associated with haplotype 1–3 relative to the activity of the pGL3-Basic plasmid, which activity was set to 1 (data not shown). Activities differed significantly between the three MR plasmids (F(2,15)=27.98; P<0.001). Data are firefly luminescent signals divided by the Renilla luminescent signals, hereby controlling for cell death and variability in transfection efficiency. *P<0.05; **P<0.01; ***P<0.001. Abbreviations: P1, promoter 1; P2, promoter 2; UTR, untranslated region.