Clinical characteristics of TIMP2, MMP2, and MMP9 gene polymorphisms in colorectal cancer

Background and Aim: Genetic variations and the expression profile of matrix metalloproteinases (MMP) and tissue inhibitors of metalloproteinases (TIMP) are involved in the invasion and metastasis of colorectal cancer. Methods: The gene profiles of TIMP2 and MMP were assayed from 333 colorectal cancer using polymerase chain reaction–restriction fragment length polymorphism. Results: TIMP2‐418*G/*G, TIMP2 303*G/*G and MMP9‐1562*C/*C were more frequent in patients than in controls (P = 0.020, P < 0.0001 and P < 0.044, respectively). Frequency of TIMP2‐418*G/*G was higher in patients with metastasis than in those without metastasis, and that of TIMP2 303*G/*G was higher in patients with rectal cancer than in those with colon cancer (P = 0.008 and P = 0.022, respectively). TIMP2‐303*A/*A and MMP2‐1575*G/*G were less frequent in patients than in controls (P = 0.001 and P = 0.005, respectively). The TIMP2‐418*G303*G haplotype was more frequent (P < 0.0001) and MMP2‐1575*G‐735*C haplotype was less frequent in patients than in controls (P = 0.005). Conclusion: Specific single‐nucleotide polymorphism in TIMP2 and MMP appeared to be associated with tumorigenesis and biological behavior in colorectal cancer, which is expected be further verified in a larger cohort in the future.