Genotyping And Haplotype Analysis Of Fetuin A In Kidney Stone Disease

Abstract

Background: The polymorphism of the plasma glycoprotein fetuin-A, a powerful inhibitor of calcification, is least studied in kidney stone disease. The purpose of the study is to compare patients with and without urinary oxalate stones in terms of the distribution of fetuin A gene polymorphisms and associated linkage disequilibrium (LD).

Methods: A total of 100 people were included in the study, of whom 50 served as case studies and the other 50 as controls. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism was used to analyse the fetuin-A c.742C>T and c.766C>G Single Nucleotide Polymorphisms (SNPs) (PCR–RFLP). SHE sisplus and SNP stat online were used to analyse the linkage disequilibrium between the SNPs.

Results: The distribution of wild and mutant alleles of fetuin-A c.742C>T and fetuin-A c.766C>G did not differ significantly. The two fetuin A SNPs displayed a strong LD of D' 0.93 & R2 is 0.77, indicating a strong allele-to-allele correlation. Alleles of the haplotype CT and CG in patients had a greater significant level (p>0.0001). The connection of dominant, recessive, and co-dominant alleles among the alleles of c.742C>T and c.766C>G was insignificant.

Conclusion: The study's findings suggest that there is no conclusive evidence linking renal stone disease with fetuin A gene variants. The co-inheritance of the alleles is supported by the LD value (D' & R2) of both SNPs. However, the kidney stone disease demonstrated a significantly significant connection with the CT and GC haplotypes of c.742C>T and c.766C>G.