Contribution of Matrix Metalloproteinase-2 and Matrix Metalloproteinase-9 to Upper Tract Urothelial Cancer Risk in Taiwan

Matrix metalloproteinase (MMP)-2 and -9, which degrade type IV collagen, are linked to cancer invasion and metastasis. Gene polymorphisms in and can influence their function, impacting cancer development and progression. This study analyzed the association between polymorphisms rs243865 (C-1306T), rs2285053 (C-735T), and rs3918242 (C-1562T) with serum concentrations of these enzymes in upper tract urothelial cancer (UTUC) patients. We conducted a case-control study with 218 UTUC patients and 580 healthy individuals in Taiwan. Genotyping was performed using PCR/RFLP on DNA from blood samples, and MMP-2 and MMP-9 serum levels and mRNA expressions in 30 UTUC patients were measured using ELISA and real-time PCR. Statistical analysis showed that rs2285053 and rs3918242 genotypes were differently distributed between UTUC patients and controls ( = 0.0199 and 0.0020). The rs2285053 TT genotype was associated with higher UTUC risk compared to the CC genotype (OR = 2.20, = 0.0190). Similarly, rs3918242 CT and TT genotypes were linked to increased UTUC risk (OR = 1.51 and 2.92, = 0.0272 and 0.0054). In UTUC patients, TT carriers of rs2285053 and rs3918242 showed higher mRNA and protein levels ( < 0.01). These findings suggest that rs2285053 and rs3918242 genotypes are significant markers for UTUC risk and metastasis in Taiwan.