A metalloproteinase-13 polymorphism affecting its gene expression is associated with advanced stages of oral cancer

Based on the known contribution of other metalloproteinases to the development of oral cancer, this study investigated the possible association of the -77A/G polymorphism in the matrix metalloproteinase-13 (MMP-13) gene with the risk of oral cancer.

The polymorphism -77A/G, which affects gene transcription, was examined in DNA samples of 161 patients with oral squamous cell carcinoma and 97 healthy controls of comparable ethnicity, age and gender.

The detected allele and carrier frequency for the high expression A allele in the patient group were not significantly increased in comparison to that of the control group (70.8% versus 65.5%, and 95% versus 89.7%, respectively). The same pattern was observed between controls and patients or subgroups of patients in regard to family history of cancer, smoking and heavy alcohol consumption. Only in the subgroup of patients with advanced stages of cancer was the allele frequency for the high expression A allele significantly increased compared to controls (p = 0.038). In the same subgroup AA genotypes had a borderline significant difference from controls (p = 0.059).

MMP-13 gene expression-related polymorphism is associated with risk for the highly aggressive form of oral cancer. The high expression A allele of the -77A/G polymorphism seems to be a prognostic factor for tumor progression.