Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population

Idiopathic hypocitraturia (IH) is a risk factor for urolithiasis. IH is associated with vitamin D receptor (VDR) gene single nucleotide polymorphisms (SNPs) in a Chinese Han population. However, this association between VDR SNPs and IH has not been recapitulated in a Chinese Bai population. The aim of this study is to investigate the association between VDR SNPs and IH in a Chinese Bai population. A total of 320 participants comprising of 200 Chinese Bai patients with IH and 120 Chinese Bai control participants with normal urinary citrate level were enrolled for this study. The VDR SNPs rs7975232, rs2228570, rs731236 and rs1544410 were detected by Sanger sequencing, and the association between these SNPs and the presence of IH in the Chinese Bai population was analyzed. The prevalence of VDR SNPs rs7975232 allele A and rs2228570 genotype TT was significantly higher in patients than in controls (p < 0.0125, after Bonferroni correction). The haplotype TCGC was a protective factor in the Chinese Bai population who otherwise might suffer from IH, while the haplotype TTGA was a risk factor. VDR SNPs rs731236 and rs1544410 have a linkage disequilibrium value of 0.811. VDR SNPs rs7975232, rs2228570, and haplotypes TCGC, TTGA are associated with IH in a Chinese Bai population.