Association of
Single nucleotide polymorphism rs1799750 of MMP-1 with Osteoarthritis susceptibility
in Indian population
Sagare Aparna, Dandekar Sucheta and Rajyadhykasha Anjali
Res. J. Biotech.; Vol. 20(6); 152-156;
doi: https://doi.org/10.25303/206rjbt1520156; (2025)
Abstract
Degenerative and inflammatory events in osteoarthritis (OA) lead to release Matrix
metalloproteases (MMPs). Single nucleotide polymorphism has been observed influencing
release of matrix degrading enzymes. Our study aims to determine influence of genetic
variants in MMPs and it may develop risk for development of OA. In the present study,
we have investigated the genotypic and haplotypic relationships of the MMP-1 and
MMP-3 genes among OA patients. PCR-RFLP was used to determine the genotypes of 60
osteoarthritis patients and 60 healthy age matched controls. Fisher’s exact test/Chi-square
test was used to compare the differences of the investigated SNPs (rs1799750, rs3025058)
allele and genotype distribution between osteoarthritis cases and controls. Correlation
between each SNP and osteoarthritis risk was assessed under multiple genetic models
analysis and haplotype analysis.
Significant difference was observed for the allele and genotype distribution of
the SNPs between cases and controls. Analysis of the genetic models (codominant,
dominant, overdominant) and haplotype (2G-5A, 1G-5A) block showed significant association
with OA susceptibility. Present case-control study is the study among Indian population
to explore the potential correlation between MMP-3 polymorphisms and osteoarthritis
risk.
