Objective: Accumulating studies indicate that HPV E6/E7 oncoproteins interacting genes, TP53, BRCA1 and BARD1, play a critical role in cervical carcinogenesis. We hypothesized that potentially functional polymorphisms in TP53, BRCA1 and BRAD1 may individually and/or jointly contribute to cervical cancer risk.
Methods: We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, TP53 Pro72Arg (rs1042522), BRCA1 Pro871Leu (rs799917), BARD1 Pro24Ser (rs1048108) and Arg378Ser (rs2229571), in a case-control study of 404 cervical cancer cases and 404 cancer-free controls in Chinese women.
Results: Logistic regression analysis showed that the BRCA1 variant rs799917 TT genotype was associated with a significantly decreased risk of cervical cancer in a recessive genetic model (adjusted OR=0.62, 95% CI=0.40-0.95), compared with the genotypes CT/CC. However, no significant associations with cervical cancer were observed for other 3 SNPs (adjusted OR=1.01, 95% CI=0.68-1.50 for rs1048108 TT vs CT/CC; adjusted OR=1.04, 95% CI=0.67-1.64 for rs2229571 CC vs GG/GC; adjusted OR=0.84, 95% CI=0.59-1.20 for rs1042522 CC vs GG/GC).
Conclusion: These findings indicate that BRCA1 rs799917 polymorphism may contribute to the risk of cervical cancer in this Chinese population, and further validation in other populations are warranted.