Matrix metalloproteinase variants associated with risk and clinical outcome of esophageal cancer.

We conducted a case-control study to investigate the role of matrix metalloproteinase (MMP) 2, MMP3, and MMP9 single nucleotide polymorphisms on susceptibility to esophageal squamous cell carcinoma (ESCC) in a Chinese population, and their association with environmental factors. A total of 226 patients with ESCC, and 226 age- and gender-matched healthy controls were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was carried out on MMP2 -1306 C>T (rs243865), MMP3 -1171 5A>6A (rs3025058), and MMP9 -1562 C>T (rs3918242) genotypes. Unconditional regression analysis showed that individuals carrying the MMP2 -1306 TT genotype had a decreased incidence of ESCC compared to those with the CC genotype [odds ratio (OR) = 0.32; 95% confidence interval (CI), 0.10-0.89, P value = 0.02]. Moreover, MMP9 -1562 CC carriers were associated with an increased ESCC risk compared to those with the TT genotype (OR = 2.71; 95%CI, 1.04-7.87, P value = 0.02). In the Cox proportional hazards model, after adjusting for potential confounding factors, patients carrying the MMP9 -1562 CC genotype had a significantly increased risk of death from ESCC (hazard ratio = 2.97; 95%CI, 1.25-6.87, P value = 0.005). In conclusion, this study showed that the MMP2 -1306 TT and MMP9 -1562 CC genotypes were associated with increased ESCC, and patients carrying the MMP9 -1562 CC genotype had a significantly increased risk of death from ESCC.