Objectives: The formation of urinary stones is hypothesized to be associated with calcitonin receptors. The most commonly seen polymorphism is C/T at the 1377th nucleotide. Hence, these polymorphisms are being used as a genetic marker in the search for the cause of urolithiasis.
Methods: A normal control group of 105 healthy people and 102 patients with recurrent calcium oxalate stones were examined. The polymorphism was detected following a polymerase chain reaction-based and restriction analysis by AluI. An uncuttable length is 228 bp (CC) whereas two fragments of 120 and 108 bp are shown as cuttable lengths (TT).
Results: The results revealed significant differences between the normal individuals and the stone patients (p<0.01). The distribution of leucine (cuttable) homozygote in the stone group (2.0%) was higher than in the control group (0.0%). The odds ratio for the leucine allele of the calcitonin receptor gene in calcium oxalate stone disease is 5.634 (95% CI: 2.286--13.885).
Conclusions: Results show that the polymorphism in the calcitonin receptor gene could be a genetic marker for urinary stone disease and therefore it is worthwhile pursuing further studies of the leucine allele of calcitonin receptor gene due to it is strongly correlated with stone disease.