The Role Of Genetic Factors In The Pathogenesis Of Urolithiasis Development

This study assesses the prognostic significance of polymorphisms in the uromodulin (UMOD) and vitamin D receptor (VDR) genes in the pathogenesis of urolithiasis (ICD) in the Uzbek population. Genotyping of UMOD rs429639 and VDR BsmI (c.IVS7 G>A) single nucleotide polymorphisms was performed by polymerase chain reaction (PCR) with allele-specific primers in 82 patients with urolithiasis and a control group. Results showed that the T allele and TT genotype of UMOD rs429639 (OR = 1.85, 95% CI: 1.05–3.29, p = 0.0337) and the G allele and GG genotype of VDR BsmI (OR = 2.18, 95% CI: 1.05–4.55, p = 0.0347) are significantly associated with increased risk of urolithiasis. Conversely, the C allele/CT genotype of UMOD and the A allele/GA genotype of VDR demonstrate protective effects. The UMOD locus deviated significantly from Hardy–Weinberg equilibrium in both groups, while the VDR locus was in equilibrium. These findings confirm the role of uromodulin and vitamin D receptor in sodium reabsorption, calcium-phosphorus homeostasis, and lithogenesis, and may be useful for developing genetic risk panels for urolithiasis in the Uzbek population.