Kidney Stones Research Today is a free monthly online journal that collates and summarizes the latest research about Kidney Stones, including details on causes, symptoms, treatment, diagnosis of nephrolithiasis, calculi. | ||||||||
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Association of vitamin D receptor-gene (FokI) polymorphism with calcium oxalate nephrolithiasis.Bid HK, Kumar A, Kapoor R, Mittal RD Department of Urology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. BACKGROUND AND PURPOSE: Formation of kidney stones is still not understood but is hypothesized to be associated with the vitamin D receptor gene (VDR). In order to assess the eventual role of VDR start-codon FokI polymorphism in stone formation, we evaluated the association between calcium stone disease and this polymorphism in a North Indian population. PATIENTS AND METHODS: A control group comprised of 166 healthy individuals (age range 22-58 years) and a group of 138 patients with calcium oxalate stones (age range 21-72 years) were examined. The polymorphism was detected using polymerase chain reaction-based restriction analysis. An unexcisable length of 265 bp (CC) and two fragments of 169 bp and 96 bp (TT) were obtained by FokI restriction digestion. RESULTS: There was a statistically significant difference between the control and patient groups (X2 test, P<0.001) for the genotype of the VDR FokI start-codon polymorphism. The odds ratio (with 95% CI) for the C allele in those at risk of stone disease was 1.654 (1.041, 2.628). The VDR frequency distribution was also statistically significant (P<0.001) in case of male sex. The frequency distribution for this genetic polymorphism was not statistically different in normocalciuric and hypercalciuric stone patients (P=0.355). CONCLUSION: The VDR FokI polymorphism may be a good candidate for a marker for calcium oxalate-stone disease. These findings may contribute a small piece to the understanding of the pathogenesis of urinary calculi. Published 28 February 2005 in J Endourol, 19(1): 111-5.
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