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

BACKGROUND: 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. PATIENTS AND METHODS: 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. RESULTS: 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). CONCLUSION: 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.

The platelet glycoprotein Ibalpha VNTR polymorphism is associated with risk for oral cancer.

BACKGROUND: We have previously found an association of platelet glycoprotein Ia polymorphism with increased risk for oral cancer. The purpose of this study was to investigate the possible relation of another platelet glycoprotein, Iba (GPIbalpha), with oral oncogenesis. PATIENTS AND METHODS: The variable number of tandem repeats (VNTR) polymorphism of the GPIbalpha gene, which affects the protein's structure and function, was examined in 162 Greek and German patients with oral squamous cell carcinoma and 225 healthy controls of equivalent age, gender and ethnicity. RESULTS: The B allele frequency detected, representing higher platelet activation, in the patient group and in the subgroups of patients without family history either of cancer or thrombophilia were significantly elevated in comparison with that of the control group (p = 0.03, p = 0.016 and p = 0.036, respectively). The D allele frequency (lower platelet activation) was significantly lower in comparison with controls only in patients with family history of thrombophilia. The frequency of B/B homozygotes was significantly increased in the total group of patients and the subgroup of patients with a family history of thrombophilia, in comparison with the control group (p = 0.042 and p = 0.043, respectively), while the frequency of heterozygotes for the C/B alleles was significantly lower in the subgroups of patients with a family history of cancer and thrombophilia (p = 0.036 and p = 0.027, respectively) compared to the control group. CONCLUSION: The VNTR polymorphism of the GPIbalpha gene, which affects the structure and function of this platelet glycoprotein, seems to be associated with risk for oral cancer, especially in patients without a family history of cancer.