Objective: To investigate the biological significance of single nucleotide polymorphism (SNP) at Fas gene promoter in cervical carcinogenesis.
Methods: SNP at -670 of Fas gene promoter (A/G) together with human papillomavirus (HPV) types were examined in a total of 279 cervical smear samples and 8 human cervical squamous carcinoma cell lines using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) techniques.
Results: 49 patients with high-grade squamous intraepithelial lesion (HSIL) had higher frequency of high-risk HPV and GA + GG genotype than 167 with low-grade SIL (LSIL) and 63 controls. G allele frequency was also higher in HSIL than in LSIL and controls. There was an increased OR (6.00; CI, 1.32-27.37; P = 0.021) for GA + GG genotype in HSIL cases compared to controls among 96 patients with high-risk HPV. 7 of 8 cervical carcinoma cell lines also showed GA or GG genotype.
Conclusion: Fas gene promoter -670 polymorphism (A/G) may be closely associated with cervical carcinogenesis in a Japanese population.