No association of vitamin D receptor gene BsmI polymorphisms with calcium oxalate stone formation.

Abstract

BACKGROUND AND PURPOSE The formation of urinary stones is reported to be associated with the vitamin D receptor (VDR). As the most frequently seen polymorphism within the VDR gene is BsmI, it has been used as a genetic marker in searching for the cause of urolithiasis. We aimed to evaluate the association between calcium stone disease and the BsmI polymorphisms. MATERIALS AND METHODS A control group of 90 healthy people and a group of 124 patients with calcium oxalate stones were examined. The polymorphism was detected using polymerase chain reaction (PCR)-based restriction analysis. A PCR product length was determined to be 580 bp (BB) whereas two fragments of 405 bp and 175 bp were determined to be excisable (bb) by BsmI endonuclease. Associations between calcium stone disease and BsmI polymorphisms were evaluated. RESULTS AND CONCLUSIONS The results revealed no significant difference between normal individuals and stone patients (P = 0.891). The allelic distribution of B and b were similar within both the normal group and the stone patients. Therefore, the BsmI polymorphism of the VDR gene at intron 8 is not a suitable genetic marker for urinary stone disease.