Background: A very high expression of nuclear factor-kappa B protein (nuclear p50, encoded by NFKB1) in high-grade squamous intraepithelial lesion and invasive cancers has been observed. The aim of this study was to determine whether the functional NFKB1 -94 insertion/deletion ATTG polymorphism (rs28362491) is associated with cervical squamous cell carcinoma (CSCC).
Materials and methods: PCR-polyacrylamide gel electrophoresis method was used to genotype the NFKB1 -94 insertion/deletion ATTG polymorphism in 233 women with CSCC and 365 ethnicity-matched healthy control women. The genotyping method was confirmed by the DNA sequencing analysis.
Results: The frequency of ATTG(2)/ATTG(2) genotype and ATTG(2) allele in the CSCC patients was significantly higher than that of controls, indicating that the -94 insertion/deletion ATTG polymorphism in NFKB1 promoter was associated with CSCC [P = 0.001, odds ratio (OR) = 2.560, 95% confidence interval (CI) 1.459-4.492 and P = 0.001, OR = 1.493, 95% CI 1.168-1.908, respectively]. Results of stratified analyses revealed that this polymorphism is associated with younger age (< or =35 years) and positive parametrial invasion but not with tumor differentiation, high clinical stage or lymph node status.
Conclusion: Our results indicate that the functional NFKB1 -94 insertion/deletion ATTG polymorphism is associated with CSCC, especially with younger age (< or =35 years) and positive parametrial invasion of CSCC patients.