Angiotensin-converting enzyme gene polymorphism in autosomal dominant polycystic kidney disease

Abstract

Abstract Background and aim : Autosomal dominant polycystic kidney disease shows considerable variability in clinical features, including differences in severity of hypertension, rate of decline of renal function and variability in rate of cystogenesis, which are not fully explained by the genetic heterogeneity of this disease. Many different modifier variables have been proposed to explain this variability. This study aims to look at the role played by polymorphism of the ACE gene as a possible modifier in the clinical course and rapidity of progression. Material and Methods : Thirty seven patients diagnosed as ADPKD were recruited to the study. Clinical data were provided by questionnaires. Blood was collected for the determination of the ACE Insertion/Deletion (I/D) polymorphism genotype. The ACE genotype was also determined in a general control population (n = 40). The data was analyzed using the SPSS software. ACE genotype polymorphism frequencies were compared across groups using the one-way ANOVA tests. λ2 cross tabulation statistics was used to test for difference between frequency data. Results: The ACE genotype distribution showed no differences between the study (II 29.7%, ID 43.2%, DD 27.1%) and the control (II 35%, ID 45%, DD 20%) populations. Although patients on hemodialysis had a significantly higher Blood Pressure levels (p = 0.004) when compared to non-dialysis patients, no significant differences were demonstrated between genotypes of the study population. No difference was also demonstrated between the genotypes for rate of decline in renal function. Conclusion : No relationship between the ACE I/D polymorphism in ADPKD patients and severity of hypertension or progression towards ESRD was demonstrated.