Association of Vitamin D Receptor Gene Polymorphism and Calcium-Containing Renal Stone Disease in the Babylon Province Population

Abstract

The main reason for kidney stones is unknown, but it is thought to be linked to the vitamin D receptor gene (VDR). Attempted to evaluate the association between calcium stone disease and the VDR start-codon (T/Crs2228570) polymorphism in the Babylon Province population to determine the polymorphism's eventual role in calcium stone formation.Method: From January to December 2020, blood samples were obtained from 60 patients admitted to the Ibn Al-Nafees laboratory and Hillah Hospitals in Babylon Province, Iraq. Furthermore, normal people were used as a control group (40 samples). A polymerase chain reaction technique was used to genotype VDR single-nucleotide polymorphisms (SNPs), followed by single-strand conformation polymorphism. As a result, DNA sequencing was used to verify these DNA polymorphisms.Results:Due to the existence of SNPs within the studied area, the conformational haplotypes of VDR, exon4, and intron 3 were got in three patterns, including two, three, and four bands. These SNPs in exon 4 causing three amino acid substitutions in VDR, includingMet 1→ Thr1, Arg30 → Leu30, and Arg49 → Ser 49.These changes in amino acids were thought to affect the VDR protein's expression and/or function. also, there are significant differences (P ≤ 0.05) in the serum levels of calcium, Phosphorus, creatinine as well as eGFR level among 2-bands, 3-band, and 4-bands for the VDR gene in the calcium-containing renal stones diseases group.Conclusion: These findings indicate that the VDR SNP rs2228570, as well as other VDR variants, maybe play a role in kidney stone disease susceptibility.