MMP3 -1171 5A/6A Promoter Genotype Influences Serum MMP3 Levels and Is Associated with Deep Venous Thrombosis.

Background: The aim of this study was to investigate the roles of MMP3 (matrix metalloproteinase-3) gene polymorphism and protein expression in deep venous thrombosis (DVT) among Chinese Han population.

Methods: A total of 280 subjects were included in this study and categorized as case group (144 DVT patients) and control group (136 healthy individuals). Polymerase chain reaction-restriction fragment length polymorphism was used to detect MMP3 promoter -1171 5A>6A genotype and allele frequencies. MMP3 serum levels were measured by enzyme-linked immunosorbent assay. SPSS version 18.0 statistical software was used for data analysis.

Results: There was significant difference in genotype frequencies of MMP3 gene -1171 5A>6A between the case group and the control group (all P < 0.05). Furthermore, the 6A allele on MMP3 -1171 5A>6A may be associated with increased risk of DVT (odds ratio 1.961, 95% confidence interval 1.309-2.939, P < 0.01). The MMP3 serum level in DVT patients was markedly higher than the control group (case group: 28.45 ± 10.97 vs.

Control Group: 18.18 ± 9.03, P < 0.05). Serum MMP3 level in DVT patients carrying 5A/6A and 6A/6A genotypes was higher than the control group (P < 0.05). The bilateral calf circumference difference was significantly higher in DVT patients than the control group among all the genotypes at MMP3 gene -1171 5A>6A (all P < 0.05).

Conclusion: MMP3 gene -1171 5A>6A polymorphism and upregulated protein expression may be associated with DVT risk in Chinese Han population.