The (-590 C/T) polymorphism in the interleukin-4 gene is associated with increased risk for early stages of corolectal adenocarcinoma.

BACKGROUND: In the light of the known association between several carcinomas and the -590C/T polymorphism, which affects transcription of the antitumor interleukin-4 (IL-4) gene, the purpose of this study was to investigate the possible contribution of this polymorphism to the development of colorectal cancer. MATERIALS AND METHODS: The -590C/T polymorphism was examined in DNA samples of 93 patients with colorectal cancer (adenocarcinomas) and 108 healthy controls of comparable ethnicity, age and gender. RESULTS: The detected allele and carrier frequencies for the high expression T allele in the patient group were significantly decreased in comparison with that of the control group (13.44% versus 22.22%, and 21.51% versus 36.11%, respectively, p<0.01). The same pattern was observed between controls and patients in initial cancer stages. CONCLUSION: These findings indicate that IL-4 gene expression-related polymorphism is associated with the development of initial stages of colorectal cancer, while in advanced stages IL-4 levels appear to be less important.

No association with risk for colorectal cancer of the insertion/deletion polymorphism which affects levels of angiotensin-converting enzyme.

BACKGROUND: In the light of the established association of angiotensin-converting enzyme (ACE) with several types of cancer, the possible contribution of the insertion/deletion (I/D) polymorphism that affects ACE gene expression, in the development of colorectal cancer was investigated. MATERIALS AND METHODS: DNA samples of 92 patients with colorectal cancer (adenocarcinomas) and 102 healthy controls were examined by allele-specific polymerase chain reaction followed by electrophoretic analysis. The resulting allele and genotype frequencies of the patients were compared to those of the controls by Fischer's exact test and odds ratios. RESULTS: No statistical differences were observed between healthy controls and patients with colorectal cancer regarding either genotype distribution or low expression I allele frequency. CONCLUSION: The ACE I/D polymorphism is not a genetic predisposing factor concerning the risk for colorectal cancer.

Heterozygosity for interleukin-18 -607 A/C polymorphism is associated with risk for colorectal cancer.

BACKGROUND: The possible contribution of interleukin-18 (IL-18) -607 A/C polymorphism towards the development of colorectal cancer was investigated. PATIENTS AND METHODS: DNA samples of 84 patients with colorectal cancer (adenocarcinomas) and 89 healthy controls were examined by allele-specific polymerase chain reaction followed by electrophoretic analysis. The resulting allele and genotype frequencies of patients were compared to those of the respective controls using Fischer's exact test and odds ratios. RESULTS: The proportion of heterozygotes in the patient group was significantly higher than that in healthy controls (p < 0.01). This significant increase was detected independently of Dukes' tumor stage. Additionally, the carrier frequency of the mutant A allele was significantly higher in the patient group compared to controls (p < 0.05). CONCLUSION: The results indicate that heterozygotes for the IL-18 -607 A/C polymorphism exhibit increased risk for colorectal cancer development.

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.