Association between genetic polymorphisms of MMPs and the risk of non-traumaticosteonecrosis of the femoral head in the Han population of northern China

Objective The aim of this study was to identify the associations between genes selected from MMPs/TIMPs system and the risk of NONFH, which can provide the genetic basis for the early diagnosis and prevention. Methods In the case-control study, we recruited 585 patients who were diagnosed with NONFH and 507 controls. Peripheral blood DNA was extracted, respectively. We genotyped 42 SNPs chosen from 9 genes of MMPs by Sequenom Mass ARRAY. The chi-square test and SNPStats analysis software were used to make statistical analysis and evaluate the association between SNPs and NONFH. Results TheMMP8 rs11225394 SNP, the MMP3 rs522616 SNP were associated with an increased risk of NONFH. The MMP3 rs650108 SNP, the MMP9 rs2274755 SNP were associated with a decreased risk of NONFH. In addition, the haplotype "TGC" and the haplotype "CTC" of MMP9 were found to be more likely to decrease the risk of the NONFH than the wild haplotype. Conclusion The genetic polymorphisms of MMP3, MMP8, MMP9 are related to the risk of non-traumaticosteonecrosis of femoral head in the Han population of northern China. Key words: Femur head necrosis; Polymorphism, single-nucleotide; Matrix metalloproteinases; Association study