Association of urokinase gene 3'-UTR T/C polymorphism with recurrent urolithiasis in children

Abstract

Purpose Urokinase is synthesized by various cells such as renal, pneumocytes, and phagocytes. It cleaves plasminogen to plasmin and hence stimulates fibrinolysis. Urokinase breaks down the matrix protein within the stone thus prevents stone formation and growth. Urokinase concentrations were found lower and urokinase gene 3’-UTR T/C polymorphism was higher in recurrent stone patients. Our aim was to investigate the role of urokinase gene 3’-UTR T/C polymorphism in childhood recurrent stone disease. Material and methods A control group of 40 healthy children having no history of stone formation (group 1) (mean age 10,5 ± 4,2), 40 children (mean age 10,5 ± 4,33) who were first time stone formers (group 2) and 40 patients (mean age 11,2 ± 3,8) with recurrent stone disease (group3) were included into the study. Groups were compared in respect to age, sex and urokinase gene 3’-UTR T/C polymorphism. Polimerase chain reaction based restriction analysis was used to identify C/T polymorphism of the urokinase gene. Results No significant difference was observed between the 3 groups in respect to age and sex. While urokinase gene 3’-UTR T/C gene polymorphism was observed in 4 patients (10%) from group 3. In group 1 and 2 there was no patient with T/C polymorphism. Conclusions Urokinase 3’-UTR T/C gene polymorphism seems to appear more commonly in children with recurrent stone disease than healthy and first time stone formers. These results suggests that the urokinase gene might play a role in childhood recurrent stone disease.