The aim of this study was to investigate the association between the risk for colorectal cancer and single nucleotide polymorphisms (SNP) of matrix metalloproteinase-2 (MMP2) -1306C/T, vascular endothelial growth factor (VEGF) 936C/T and hypoxia inducible factor-1α (HIF1A) 1772C/T.
Patients and methods: A total 50 colorectal cancer patients (46% women, mean age 68 ± 11 years) were enrolled. Healthy controls without evidence of cancer history or family cancer predispositions were frequency-matched to the cases by sex and age (±5 years). Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and the genotype distribution and risk estimate were analyzed. The correlation between the genotypes and clinicopathological parameters (Dukes stage, phenotype, location, differentiation and size) among colorectal cancer patients were investigated.
Results: There was a significant association between colorectal cancer and T allele-bearing genotype distribution of HIF1A 1772C/T polymorphism (Odds ratio, OR=3.63, 95% confidence interval, CI = 1.08-12.18, p = 0.03 for CT and TT genotypes relative to CC genotype). In addition, when stratified by age, the association remained in patients older than 60 years old (OR = 13.60, 95% CI = 1.63-113.24, p = 0.01). However, there was no association between the genotypes of the MMP2, VEGF and HIF1A SNP and clinicopathological parameters of colorectal cancer.
Conclusion: There is a significant association between the HIF1A 1772C/T SNP and the risk of developing colorectal cancer, especially in individuals older than 60 years.