Association of Angiotensin Converting Enzyme Gene Deletion/Deletion Genotype with Risk of Autosomal Dominant Polycystic Kidney Disease: A Single-center Study from Iranian Azeri Turkish Population

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Introduction. Autosomal Dominant Polycystic kidney disease (ADPKD) is defined as one of the most common genetic disorders and the cause of kidney failure or end-stage kidney disease (ESKD). Several studies have shown that renin-angiotensin system has an important role in pathogenesis of ADPKD. The aim of this study was to examine the association between the angiotensin converting enzyme (ACE) gene Deletion/Deletion (D/D) polymorphism and risk of ADPKD among Iranian patients from west Azerbaijan province of Iran. Methods. This case-control study was conducted on 40 patients and 72 controls. Genetic polymorphism of the ACE gene was determined using polymerase chain reaction (PCR) and electrophoresis. Result. The frequency (frequency%) of ACE gene I/I, I/D, D/D genotypes were 5 (12.5%), 12 (30%), 23 (57.5%) in cases and 16 (22.22%), 30 (41.67%), 26 (36.11%) in controls, respectively. The frequency (frequency%) of ACE gene I and D alleles were 22 (27.5%) and 58 (72.5%) in cases and, 62 (43.06%) and 82 (56.94%) in controls, respectively. Statistical analysis indicated that there were significant differences among the cases and controls regarding ACE gene D/D genotypes (P = .028). The ACE gene D/D genotype was associated with increased ADPKD susceptibility with an OR of 2.39, (95%) CI = (1.09–5.28), and P = .028. But in the case of ACE gene, I/I and I/D genotypes, there were no statistically significant differences between cases and controls (P > .05). Considering allelic comparison, the ACE gene D allele was associated with ADPKD susceptibility with an OR of 1.99, (95%) CI = (1.1–3.6), and P = .021. Conclusion. Our findings suggest that ACE gene D/D genotype was associated with ADPKD.

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