Introduction: Idiopathic hypocitraturia is a known risk factor for urolithiasis. Several studies have shown an association between vitamin D receptor (VDR) gene polymorphisms and urolithiasis. The aim of this study was to investigate the relationship between VDR gene polymorphisms and idiopathic hypocitraturia in a Chinese population. Subjects and Methods: We chose 50 Chinese subjects with normal urinary citrate levels (N) and 31 Chinese subjects with idiopathic hypocitraturia (L). The VDR polymorphisms Bsm I, Fok I, Taq I, and Apa I were detected using the PCR-RFLP technique, and the relationship between these polymorphisms and the presence of idiopathic hypocitraturia was analyzed. Results: We found that the prevalence of ‘bb’, ‘ff’, and ‘TT’ VDR genotypes were significantly higher in the ‘L’ group than in the ‘N’ group (p < 0.05). We also found much lower 24-hour urinary citrate concentrations in patients with ‘bb’, ‘ff’, and ‘TT’ genotypes than in patients with other genotypes (p < 0.05). Conclusions: These results showed that there might be a genetic association between Bsm I, Fok I, and Taq I VDR polymorphisms and idiopathic hypocitraturia in the Chinese population.

Keywords:
Vitamin D receptor, Gene, Single nucleotide polymorphism, Idiopathic hypocitraturia, Urolithiasis
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© 2010 S. Karger AG, Basel
2010
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