The association among vitamin D receptor gene, Klotho gene polymorphisms and calcium urolithiasis

Objective We aimed to investigate the relationships among vitamin D receptor (VDR) gene,klotho gene polymorphisms and the risk of calcium urolithiasis in the Han nationality of Eastern China.Methods 306 patients with calcium urolithiasis were compared with 241 age-matched healthy volunteers with no history of stone formation for the frequency of VDR gene polymorphism Fok Ⅰ and klotho gene polymorphisms (G395A in the promoter region and C1818T in exon 4),using TaqMan SNP Genotyping Assays.Results The results revealed that patients carrying the FF homozygote had a higher risk of stone formation than those with the ff homozygote [odds ratio (OR) =1.68,95％ confidence interval (CI) =1.03-2.76,P ＜ 0.05].We also found those with F allele had a absolutely higher prevalence of stone formation compared with subjects with f allele (OR =1.28,95％ CI =1.01-1.63,P ＜ 0.05).Conclusion These findings indicated the Fok Ⅰ polymorphism of VDR gene was associated with the risk of calcium urolithiasis,which might act as a risk factor for stone formation in our study sample. Key words: Klotho;  Vitamin D receptor;  Urolithiasis ;  Single nucleotide polymorphism