Genetic polymorphism (rs246079) of the DNA repair gene uracil N-glycosylase is associated with increased risk of cervical carcinoma in a Chinese population.

The aim of this case-control study was to clarify the relationship between uracil N-glycosylase (UNG) rs3219218 and rs246079 genotypes and risk of cervical squamous cell cancer (CSCC). Modified polymerase chain reaction-mismatch amplification (MA-PCR) was applied for genotyping UNG rs3219218 (A/G) and UNG rs246079 (A/G) polymorphisms in 400 CSCC, 400 cervical intraepithelial neoplasia (CIN) III, and 1200 normal controls. We observed no association between the UNG rs3219218 (A/G) polymorphism and risk of CIN III or CSCC. However, risk of CIN III (odds ratio [OR] = 1.58) and CSCC (OR = 2.08) was significantly increased in cases with the homozygous GG genotype of UNG rs246079. At the UNG rs246079 (A/G) locus, individuals with the G allele or G carrier (GG + AG) genotype were at higher risk for CIN III (OR = 1.34) and CSCC (OR = 1.55). In the high-risk HPV (HR-HPV) positive group, homozygous GG of the UNG rs246079 genotype was associated with significantly increased risk of CSCC (OR = 2.37) and CIN III (OR = 1.81). Meanwhile, the proportion of G allele was significantly increased in CIN III (49.2%, OR = 1.33) and CSCC (52.5%, OR = 1.50) groups. G allele or G carrier (GG + AG) genotype was identified as a high-risk factor in CSCC (OR = 1.67) while in the CIN III group, no major differences were evident relative to the control group (OR = 1.45). A particularly high level of enrichment grouping was evident according to the number of sexual partners in the CIN III (P = .036) and CSCC (P = .001) groups. Our data clearly suggest an association between UNG rs246079 (A/G) and CSCC carcinogenesis, supporting the potential application of this polymorphism as a genetic biomarker for early prediction of cervical carcinoma.