SIRT1 gene polymorphisms in kidney stone disease

The aim of this study was to investigate the relationship between SIRT1 gene polymorphisms and the presence of kidney stones, as well as the expression of SIRT1 in the serum of patients with kidney stones compared to those without this condition. In this cross-sectional study, we recruited 100 patients with kidney stones and 100 control subjects without kidney stones. We conducted genotyping for three specific single nucleotide polymorphisms (SNPs)-rs3740051, rs10509291, and rs932658 of the SIRT1 gene using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) based on blood samples obtained from the participants. Sirtuin-1 levels were measured using an enzyme-linked immunosorbent assay (ELISA). Statistical analyses were performed using SPSS version 21. We assessed the Hardy-Weinberg equilibrium for the alleles. The associations were examined through Chi-square tests, pairwise linkage disequilibrium, and the study of haplotypes created from the three SNPs using SNPStat online and Shesisplus. We found no significant associations between the genotypes of the three SNPs and kidney stone disease (x2=0.633, p=0.277; x2=0.785, p=0.5371; and x2 = 2.74, p=0.098). Additionally, there was no significant connection between the SNPs (rs3740051, rs10509291, and rs932658) and Sirtuin-1 expression (x2=0.2776, p=0.598; x2=0.2413, p=0.6233; and x2=1.332, p=0.248), respectively. It is noteworthy that serum Sirtuin-1 levels were insignificantly reduced in cases compared to controls (p=0.233). The three SNPs of SIRT1 showed weak linkage disequilibrium, indicated by low D' values (0.53, 0.55, and 0.73). The low R2 values (0.21, 0.1, and 0.06, respectively) did not support the co-inheritance between the alleles. Our study found no substantial association between SIRT1 gene polymorphisms and the presence of kidney stones. However, the observation of reduced serum sirtuin1 levels in cases suggests a potential protective role of SIRT1 in kidney stone formation.