| Objective:Calcium-containing kidney stone is a complex disease with a variety of pathogenesis and clinical manifestations. Genetic and environmental factors may increase its susceptibility. Calcium-sensing receptors in kidney (CaSR) regulate different tubular segments, which perform electrolyte and water excretion function. This receptor is a candidate gene for susceptibility to calcium kidney stone. In our experiments, the single nucleotide polymorphisms of rs7652589 and rs1501899 locus of patients with urinary calculi. And the molecular mechanism of urinary calculous formation were further explored by investigating the relationship of the calcium-sensing receptor gene polymorphisms and urinary calculi.Methods:In our hospital,the clinical data and blood samples of 97 cases of local patients with urinary calculi and 130 healthy volunteers participating in healthy subjects were collected. The genomic DNA were extracted from their blood samples. The single nucleotide polymorphisms of calcium sensing receptor allele rs7652589 and rs 1501899 locus were detected and analyzed by the polymerase chain reaction (PCR) and DNA sequencing methods.Results:The polymorphic frequency and distribution of rs7652589 and rs1501899 alleles in the two groups were in line with Hardy-Weinberg law. GG homozygotes in the polymorphic distribution reduced significantly in patients with urinary calculi, and this gene frequency distribution were markedly different between urinary stone patients and normal control subjects (P＜0.05).Conclusions:the change of single nucleotide polymorphisms of rs7652589 and rs1501899 calcium sensing receptors are the probable one of the reasons for the individual susceptibility to calcium kidney stones. And stone formation may result from calcium and phosphorus metabolism abnormality, which relate to abnormal gene expression because of the CaSR polymorphisms. |
PDF Full Text Request