The Role of ACE I/D Polymorphism In End-Stage Renal Disease: Genetic Insights And Clinical Implications

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Asmita B. Patil, Jayashree V. Ganu, Gouri M. Bhoite, Abdulrahaman A. Momin

Abstract

Introduction: End stage renal disease (ESRD), a severe consequence of chronic kidney failure, presents a global healthcare challenge. The Angiotensin-Converting Enzyme (ACE) gene's role in the renin-angiotensin-aldosterone system (RAAS) makes it of particular interest. This study investigates the potential links between genetic polymorphism in ACE gene, specifically the Insertion/Deletion (I/D) variant, and the risk of developing End Stage Renal Disease (ESRD). The goal is to shed light on the molecular basis of ESRD, potentially offering insights into personalized therapeutic strategies for this debilitating condition.


Material and methods: The study involved 180 ESRD patients and an equal number of matched healthy controls, with genetic and biochemical analyses performed. The genetic analysis of ACE I/D polymorphism in ESRD patients and controls revealed significant associations with disease susceptibility.


Results and conclusion: The DD genotype of ACE I/D was markedly more prevalent in ESRD patients than in controls, as were the D allele frequencies. Logistic regression analysis indicated no significant association between biochemical parameters and the ACE I/D polymorphism. Additionally, comparisons based on the presence or absence of this polymorphism revealed significant differences in various biochemical parameters, providing valuable insights into its potential role in ESRD pathogenesis. These findings underscore the importance of ACE genetic variations in ESRD susceptibility, opening avenues for further research and personalized therapeutic strategies.

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