The genotypes of FAS −670A/G, FAS −1377G/A, and FASL −844C/T were assessed in 143 patients with high-grade squamous intraepithelial lesions (HSIL), 175 patients with invasive squamous cell carcinomas (SCC), and in age-matched controls by real-time PCR with allele-specific TaqMan probes. The status of cervical high-risk HPV infection was determined and adjusted to test the independence of genotype in the risk assessment.
The A-allele and AA-genotype frequencies of FASA −670G were significantly higher in HSIL/SCC than in controls (60%vs. 54%, P = 0.04, OR 1.26 [95%CI 1.01–1.57]; 38.0%vs. 28.6%, P = 0.02, OR 1.70 [95%CI 1.07–2.70]). No association between FAS −1377 or FASL −844 polymorphisms and HSIL/SCC could be identified. The FAS −1377A/−670A haplotype conferred a higher risk for HSIL/SCC (OR 3.05, 95%CI 1.28–7.30) than FAS −670A alone (OR 1.26, 95%CI 1.28–7.30). The interaction between FAS −670AA and FASL −844CC genotypes was associated with a risk of HSIL/SCC (OR 2.13, 95%CI 1.06–4.29) higher than that of the FAS −670AA genotype alone (OR 1.70, 95%CI 1.07–2.70).
The FAS −1377A/−670A haplotype in combination with FASL −844C is associated with cervical carcinogenesis.