A Cross-Sectional Study On Fetuin A Gene Polymorphism And Linkage Disequilibrium In Patients With Urinary Oxalate Stones

Abstract

Background: Fetuin-A is a plasma glycoprotein, a potent inhibitor of calcification, the polymorphism of which is least explored in kidney stone disease. The aim of the study  is to evaluate the pattern of fetuin A gene polymorphisms and their linkage disequilibrium(LD) in patients with and without urinary oxalate  stones .

Methods: One Hundred subjects were recruited to the study, out of which  50 were case & 50 were controls. Analysis of the Single Nucleotide Polymorphisms (SNPs) of fetuin-A c.742C>T and c.766C>G were performed with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR–RFLP). Linkage Disequilibrium between the SNPs was carried out using the SHEsis plus and SNP stat online.

Results: There was no significant difference in the distribution of wild and mutant alleles of  Fetuin-A c.742C>T and Fetuin-A c.766C>G. 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.Haplotype CT & CG alleles showed a higher significant level p>0.0001 in patients. Among the alleles of c.742C>T & c.766C>G, the association of dominant, recessive and co-dominant alleles were insignificant. There was no significant association between the fetuin A gene polymorphisms and their expression.

Conclusion: It could be concluded from the study that there is no significant association between fetuin A gene polymorphisms and renal stone disease.  LD value(D’ & R²) of both the SNPs supports co-inheritence of the alleles. However haplotypes of  CT and GC of c.742C>T  and c.766C>G showed a highly significant association with the kidney stone disease.