Association of polymorphisms in angiotensin II receptor genes with aldosterone-producing adenoma / 华中科技大学学报（医学）（英德文版）

ABSTRACT

This study examined the association of polymorphisms in angiotensin II receptor genes (AT (1) R and AT (2) R) with the risk for aldosterone-producing adenoma (APA) in a Chinese Han population. Four polymorphisms including rs5182 (573T/C) in exon 4, rs5186 (1166A/C) in 3'-untranslated region (3'-UTR) in AT (1) R gene and rs5194 (2274G/A) in 3'-UTR, rs1403543 (1675G/A) in intron 1 in AT (2) R gene were detected in 148 APA patients and 192 normal subjects (serving as control) by using a MGB-Taqman probe. The distribution of genotypes of each locus was in accordance with Hardy-Weinberg Equilibrium (HWE) in the APA and control groups (P>0.05). The allele A frequency at rs5194 was significantly higher in the APA group (0.49) than in the control group (0.35) (χ (2)=12.08, P=0.001). Subjects with homozygotic genotype AA and heterozygotic genotype GA were at an increased risk for APA as compared to those with GG genotype (OR=2.66, 95% CI=1.45-4.87; OR=1.67, 95% CI=1.02-2.74). Furthermore, rs5194 single-nucleotide polymorphism (SNP) at AT (2) R gene was significantly associated with APA in additive (OR=1.64, 95% CI=1.21-2.20, P=0.001), dominant (OR=1.94, 95% CI=1.23-3.06, P=0.003), and recessive model (OR=2.01, 95% CI=1.17-3.45, P=0.01). It was concluded that rs5194 polymorphism at AT (2) R gene was associated with the risk for APA, which may constitute a genetic marker of APA.