Background: The tumor protein 53 (TP53 or p53) plays an important role in tumor suppression by binding to the regulatory region of its target genes. Single nucleotide polymorphisms (SNP) located in the p53 binding regions are likely to affect the expression of p53 target genes and may contribute to susceptibility to common diseases. The role of the genetic variations in esophageal squamous cell carcinoma (ESCC) has been well explored. However, the role of p53 binding region variations in esophageal cancer is poorly understood.
Methods: We investigated the association of 6 p53 binding region polymorphisms with susceptibility of 400 ESCC cases and 400 cancer-free controls in a Southwest Chinese population using the SNapShot assay. Differences in frequencies of the SPNs genotypes between cases and controls were evaluated using the chi-square test.
Results: We found that the C allele of rs1009316 in Bax and rs762624 in CDKN1A can decrease the risk of ESCC. In the multiple genetic model, we found that the rs2395655 in CDKN1A is related with the risk of ESCC, and that the G allele increases the susceptibility to ESCC (OR: 1.364; 95% CI: 1.104-1.685). We carried out a stratification analysis between alleles and risk of ESCC according to clinical stage. There was no relationship between these SNPs and clinical stage.
Conclusion: SNPs in the p53 binding region may modulate the risk of ESCC in the Southwest Chinese population.