An association study between VDR gene polymorphisms and nephrolithiasis was conducted in different populations, but it is not yet known whether the association exists in the Han Chinese population. Here, we genotyped three SNPs (rs731236, rs7975232 and rs10735810) in the promoter region of the VDR gene by iMLDR genotyping assays in a large case-control cohort. The results demonstrated that there was no association found between the three SNPs (rs731236, rs7975232 and rs10735810) in the VDR gene and nephrolithiasis, whether in allele or genotype distribution. However, SNP rs10735810 was correlated with the level of serum calcium in control groups, but not in patient groups. In conclusion, considering the large sample size, we believe that the SNP rs10735810 allele A in the VDR gene promoter region may influence the level of serum calcium, but not influence the formation of nephrolithiasis in a Han Chinese population.
Keywords: Genetics; Nephrolithiasis; VDR gene.