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.

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.