Asian Research Thesis Index

Abstract

In the gene vitamin D receptor (VDR) the polymorphisms have been reported by several studies to be linked with urolithiasis in various ethnic groups worldwide. This is preliminary report of investigating the role of VDR gene polymorphism in infantile urolithiasis in Punjabi population of Pakistan. In the present study, we examined the VDR gene polymorphism (TaqI) on PCR-RFLP based in seven families with positive family history of renal stone formation from Punjab province of Pakistan. The analysis showed that the single nucleotide polymorphism (SNP) followed HWE that p > 1.00. The allelic and genetic frequency varied significantly among patients and controls. Controls were with higher frequency of TT genotype whereas patients were with both CT and CC genotype. Genotype CT Taq-I and CC Taq-I demonstrated significantly higher risk (?2=57.778, df=2, ?2/df=28.89, P(?2 > 57.778) = 0.0000). Variant C allele of Taq-1 polymorphism exhibited higher risk (?2=60.379, df=1, ?2/df=60.38,P(?2 > 60.379) =0.0000). Therefore it was observed that Taq-I polymorphic site on VDR gene was significantly associated with the urolithiasis in studied patients (p< 0.01). Further, patients with combination of CC and CT of Taq-I increase the risk of renal stone. Overall, the present results suggested the Taq-1 VDR genotype could be candidate gene leading to infantile urolithiasis.

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