Polymorphisms of TP53 gene and its association with colorectal cancer: A case-control investigation

The tumor suppressor gene (TP53) is crucial for DNA repair mechanism, apoptosis, and cell cycle regulation and progression. In human cancer, TP53 is mutated and highly polymorphic. In the current case-control research investigation, we investigated TP53 gene SNPs, in exonic and intronic regions, as potential risk factors for colorectal cancer (CRC). This study comprised of 192 patients and 192 control. Obtained data illustrated that only the G allele; rs1042522 (Pro72Arg (C > G), demonstrated a statistically significant association, almost 1.5-fold induction promotes the risk of CRC development in contrast to individuals with the C allele (OR = 1.5, χ2 = 7.28, p = 0.00696). The homozygous variant GG genotype of rs1042522 was also a significant risk factor to CRC development (OR = 2.1, χ2 = 6.41, p = 0.01136). SNP rs1042522 polymorphism established a considerably elevated odds of CRC among male patients aged < 57 years and in patients’ with tumors situated in colon region. In silico analysis exhibited that proline to arginine amino acid substitution affects the protein structure. Both rs1642785 and rs9894946 SNPs did not demonstrate any significant statistical association with CRC. In conclusion, this study confirmed that rs1042522 SNP within TP53 gene is correlated with possibility of developing CRC in the Saudi population. This finding highlights those polymorphisms within TP53 gene could act as a diagnostic indicator for CRC.