Objectives: To study single nucleotide polymorphisms to investigate the possibility that urokinase is involved in the formation of urolithiasis, which, although lacking in genetic evidence, has been previously proposed.
Methods: A total of 153 patients with recurrent calcium stones and 105 controls were studied. Polymerase chain reaction-based restriction analysis was used to identify the C/T polymorphism of the urokinase gene, which is mapped on the 3'-untranslated region (3'-UTR) on chromosome 10.
Results: A significant difference was found in the distribution of the urokinase gene 3'-UTR C/T polymorphism frequency between patients with stones and normal controls (P <0.05). The odds ratio for the risk of the "T" allele in patients with stones was 3.088 (95% confidence interval 1.06 to 8.99).
Conclusions: The results of our study demonstrate that the urokinase gene 3'-UTR "T" allele is associated with calcium stone disease. Individuals possessing the "T" allele have a higher incidence of calcium oxalate stone disease. The results of this study provide genetic evidence that the urokinase gene may play a role in stone formation.