Association of rs11746443 (RGS14) Polymorphism with Susceptibility to Calcium Kidney Stones Disease

Abstract

Although the exact cause of kidney stones is unclear and complicated, it is believed to be related to the Receptor of G Protein Signaling 14 gene (RGS14). To determine the polymorphism's eventual role in calcium stone formation, attempted to evaluate the association between calcium stone disease and the RGS14 (G/A rs11746443) polymorphism in the Babylon Province population. 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 RGS14 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 RGS14 were obtained using SSCP-PCR in four patterns: 2-bands, 3-bands, 4-bands, and 5-bands. The sequencing results of this region revealed that were five SNPs. one of these SNP is rs11746443 , which is located at the chromosomal site 177371305  G/A (Intron 12). This SNP may be associated with renal calcium-containing stone diseases because it is positioned upstream of the SLC34A1 and AQP1 genes, which play a role in kidney task  and the concentration of urine. Whereas, other SNPs in the exon 13 leads to change four amino acid residues of  RGS14. These changes in amino acids were thought to not affect the calcium stones formation. Conclusion: These results indicate that the RGS14 SNP (rs11746443)  maybe play a role in kidney stone disease susceptibility.