Association study of the MMP1 gene polymorphism with knee osteoarthritis in Thais by high resolution melting (HRM) analysis

Abstract

Osteoarthritis (OA) is the most common chronic joint disease in aging people. It is characterized by the degeneration and loss of the cartilage at the joint surface, accompanied by subchondral bone changes. Since the first characteristic of OA is the loss of collagen network, matrix metalloproteinases (MMPs) with collagenase activity are of interest as the possible cause of OA. The objective of this study was to investigate the association between a deletion SNP in MMP1 promoter (rs1799750; 1G/2G) and knee OA susceptibility in a Thai population. The study subjects consisted of 108 knee OA patients and 119 healthy controls. SNP genotyping was carried out by high resolution melting (HRM) analysis on the CFX96 TM real-time PCR system (Bio-Rad). The melt profiles from all DNA samples were processed by Precision Melt Analysis TM software. The allele frequencies (2G and 1G) and genotype distributions (2G/2G, 2G/1G and 1G/1G) were compared between patients and controls using the StatCalc program. The results showed that all genotypes are normally distributed, and the 2G allele is the major allele in this study population. No statistically significant association was found from all alleles and genotypes tested, both in the whole group and gender stratified groups. In conclusion, a SNP in the promoter of MMP1 was not associated with knee OA susceptibility in a Thai population.