Expression Profiles of CLDN2, CLDN14, and CaSR Genes in Idiopathic Calcium Oxalate Kidney Stones Patients of South Panjab, Pakistan

Abstract

Background: Kidney stone disease is a prevalent and multifactorial condition with mechanisms that remain poorly understood. Idiopathic calcium oxalate urolithiasis (ICOU) is characterized by calcium stone formation despite normal serum calcium levels. This study investigated the expression profiles of CLDN14, CLDN2, and CaSR genes in patients with ICOU from South Punjab, Pakistan. Methods: A case-control study was conducted involving 80 participants: 40 patients diagnosed with idiopathic calcium oxalate stones and 40 healthy controls selected through non-probability sampling. Gene expression was analyzed using polymerase chain reaction (PCR) techniques, and data were statistically evaluated using GraphPad Prism 8, with p < 0.05 considered significant. Results: The mean age of participants was 39 years, with males comprising 72% and females 27.5% of the cohort. A positive family history of nephrolithiasis was observed in 23.7% of cases. Significant differences were noted in biochemical parameters, including serum creatinine and 24-hour urinary calcium, between cases and controls. Molecular analysis revealed markedly increased expression of CLDN14 and CaSR in patients compared to healthy individuals, indicating their involvement in stone pathogenesis. Conclusion: The altered expression of CaSR, CLDN14, and CLDN2 genes in patients with idiopathic calcium oxalate urolithiasis suggests their potential role in the genetic susceptibility and molecular mechanisms underlying calcium-based nephrolithiasis in this population.