The role of matrix metalloproteinase 14 polymorphisms in susceptibility to intervertebral disc degeneration in the Chinese Han population

Introduction: Matrix metalloproteinase 14 (MMP14) plays an important role in the pathophysiology of intervertebral disc degeneration (IVDD). The present study aimed to determine whether two single nucleotide polymorphisms (-378 T/C and -364 G/T) of MMP14 were associated with the risk and severity of IVDD in the Chinese Han population. Material and methods: A total of 908 patients with IVDD and 906 healthy controls were enrolled in this study. The grade of disc degeneration was determined according to Schneiderman's classification for magnetic resonance imaging. The polymorphisms of MMP14 were genotyped using polymerase chain reaction and direct sequencing. Results: The genotype distribution of -364G/T did not show a significant difference between IVDD patients and healthy controls. The frequencies of the -378T/C and CC genotypes were significantly lower among IVDD patients compared with healthy controls (p < 0.001); unconditional logistic regression analysis revealed that the CT and CC genotypes were significantly associated with a decreased risk of IVDD compared with the TT genotype (p < 0.001). Patients with IVDD showed significantly higher frequencies of the T allele at -378T/C than healthy controls (p < 0.001). In addition, the -375 CC genotype, as well as the C allele, was associated with lower degenerative grades of IVDD compared with the TT genotype and the T allele, respectively (both p < 0.001). Conclusions: The -378T/C polymorphism of MMP14 may be associated with the risk and severity of IVDD in the Chinese Han population. It shows potential to become a biomarker to predict risk and severity of IVDD.