A cross-sectional study on fetuin-A gene polymorphism and linkage disequilibrium in patients with urinary calcium oxalate stones

Background: Fetuin-A is a plasma glycoprotein, a strong inhibitor of concretion, the polymorphism of which is least explored in kidney stone disease. The study needs to assess the pattern of fetuin-A gene polymorphisms and their linkage disequilibrium(LD) in subjects with and without urinary oxalate stones.
Methods: 100 participants were recruited for the study, out of which 50 were cases and 50 were controls. Single nucleotide polymorphisms (SNPs) of fetuin-A c.742C>T and c.766C>G gene were performed with polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP). LD between the SNPs was carried out using the SHEsisplus and SNPstat online.
Results: Genotypic distribution of fetuin-A c.742C>T and fetuin-A c.766C>G wild and mutant alleles frequencies were statistically insignificant. The two SNPs of fetuin-A showed a strong LD of D’ 0.93 & R2 is 0.77, which implies strong co-inheritance of the alleles. Significance of p>0.0001 was observed in the distribution of haplotype CT & CG alleles in patients. Among the alleles of c.742C>T & c.766C>G, the association of dominant, recessive, and co-dominant alleles were insignificant. Association of fetuin-A gene polymorphisms and their expression showed no significant difference.
Conclusions: We conclude from the study that there is no significant association between fetuin-A gene polymorphisms and renal stone disease. The LD value (D’ & R2) of both the SNPs supports the co-inheritance of the alleles. However, haplotypes of CT and GC of c.742C>T and c.766C>G showed a highly significant association with kidney stone disease.