PURPOSE: There are various causes of
ureter calculi , and genetic factors are known to
play a
role .
Interleukin-1beta (IL-1beta) and
calcium-sensing receptor (CaSR)
genes are related to
hypercalciuria , and
urokinase is related to the formation of
calcium oxalate stones. This study investigated polymorphisms in IL-1beta, CaSR, and
urokinase in
patients with
urolithiasis and healthy controls. MATERIALS AND
METHODS: Urolithiasis patients treated at Chung-Ang
University Hospital were enrolled from January 2007 to December 2008. The
control group of
volunteers displayed normal
urinalysis findings in the
health screening , no stones identified by
ultrasonography , and no
history of
urolithiasis .
DNA extracted from peripheral
blood was analyzed by the
polymerase chain reaction .
Patients were genetically screened for
mutations in IL-1beta (484
urolithiasis patients , 208 controls), CaSR (433
urolithiasis patients , 197 controls), and
urokinase (370
urolithiasis patients , 167 controls). Stone metabolic study was done to see the differences between the metabolic factors and to discern normal
genes from polymorphic
genes .
RESULTS: According to the
genotype frequency and
allele frequency analysis , there were no statistically significant differences between IL-1beta, CaSR, and
urokinase genes . Also, the
analysis between
genotypes and metabolic factors did not show statistically significant differences between the three
genes .
CONCLUSIONS: In Korean
urolithiasis patients , IL-1beta, CaSR, and
urokinase gene polymorphisms do not differ from those of healthy individuals. A larger-scale study is needed to confirm the need for other
genetic markers of
urolithiasis .