Ser326Cys polymorphism in the hOGG1 gene, which is involved in the repair of
8-hydroxyguanine in oxidatively damaged
DNA, has been identified and the variant genotype appears to be related to susceptibility to certain
cancers. We investigated the association between Ser326Cys polymorphism and
squamous-cell carcinoma of the esophagus among a Chinese population. hOGG1 gene polymorphism was detected by PCR-based single-strand conformation polymorphism and
DNA sequencing among 201 normal controls and 196 patients with
esophageal cancer from Linxian, China, a high-risk area for the disease. The association between this genetic polymorphism and risk of the
cancer was examined by a multivariate analysis. We found that the distribution of hOGG1 Ser326Cys genotypes among controls (Ser/Ser, 33.8%; Ser/Cys, 52.8%; and
Cys/Cys, 13.4%) was significantly different from that among
esophageal cancer cases (39.8%, 38.8% and 21.4%, respectively) (p < 0.05). Homozygosity for the
Cys/Cys genotype significantly increased the risk of developing
esophageal squamous-cell carcinoma, with the odds ratio (OR) adjusted for age, sex and smoking being 1.9 (95% confidence interval [CI] = 1.3-2.6). Although smoking alone also significantly increased
esophageal cancer risk in this case-control study (adjusted OR = 2.6; 95% CI = 1.7-3.9), no significant interaction between smoking and the
Cys/Cys genotype was observed in terms of risk. Our results suggest that the hOGG1 326Cys allele might play a role in the
carcinogenesis of the esophagus.