Association study of TAAAA polymorphism in the first intron of p53 gene with risk of colorectal cancer in Iranian population

Abstract

Abstract Background Colorectal cancer is the most common gastrointestinal cancer and the third most common cancer over the world. Genetic mutations in the p53 gene are associated with tumorigenesis of most cancers. So far, no study has been conducted on the association between TAAAA repeats in the first intron of the p53 gene and risk of colorectal cancer. In this study, we investigated the association of the TAAAA polymorphism in the first intron of p53 gene with colorectal cancer. We evaluated p53 gene polymorphism in 151 patients with colorectal cancer and a control group of 180 healthy individuals. For TAAAA repeat polymorphism evaluation, we used conventional polymerase chain reaction (PCR) to amplify the desired sequence and the number of TAAAA repeats was specified by polyacrylamide gel electrophoresis and direct sequencing. Results In the present study, 5 different alleles of TAAAA repeat with 6–10 repeats and 13 allele genotypes were determined between cases and controls. The most frequent allele in both controls (59.8%) and cases (57.6%) was the 8 repeats of TAAAA. Results of homozygous genotypes equal or lower than 8 repeats are higher among the healthy individuals than among the cases. In contrast, the number of genotypes equal or higher than 9 (9.10, 9.9) was higher among the colorectal cancer patients. Because of the small size of the studied population, the statistical analysis did not demonstrate a significant relationship. Also, there is no significant association between genotype, metastasis, and age. Conclusion Our observations did not show a significant association between the TAAAA repeat polymorphism in the first intron of the p53 gene and the colorectal cancer risk.