A Study of Chronic Kidney Disease of unknown etiology (CKDu) in Uddanam region of North Coastal Andhra Pradesh, India, with ACE and NOS3 polymorphisms

Abstract

Background: Chronic kidney disease (CKD) is a prolonged condition defined by the progressive deterioration of renal function, resulting in the accumulation of waste in the body. Chronic Kidney Disease (CKD) poses a substantial health burden for the general population. Uddanam is afflicted with chronic kidney disease of unknown etiology (CKDu). This study aims to assess the association of gene polymorphisms ACE rs4343 and NOS3 rs1799983 in patients and controls in the Uddanam region of Andhra Pradesh, India. Methods: The study included 209 individuals diagnosed with CKD as cases and 202 siblings or first-degree relatives of the patients as controls. ACErs4343 and NOS3 rs1799983 were both genotyped using the PCR- RFLP technique. Results: The ACE rs4343 polymorphism showed no statistically significant differences in genotype or allele frequencies between patients and controls (χ² = 1.6397; p = 0.440). The NOS3 rs1799983 polymorphism showed a significant association in genotype and allele frequencies between CKDu cases and controls (genotype χ² = 18.46, p = 0.000098; allele χ² = 10.91, p = 0.000957). It also revealed a strong association with CKDu under co-dominant, allelic contrast, dominant, and over-dominant models (all P<0.05), highlighting the GT genotype and T allele as potential risk factors. Conclusion: These findings reveal that NOS3 gene variation is significant for the development of CKDu pathogenesis, while suggesting that ACE rs4343 may play a limited or non-contributory role in the CKDu in the Uddanam population.