Ser326Cys polymorphism in hOGG1 gene and risk of esophageal cancer in a Chinese population

Int J Cancer. 2001 May 20;95(3):140-3. doi: 10.1002/1097-0215(20010520)95:3<140::aid-ijc1024>;2-2.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Asian Continental Ancestry Group / genetics
  • Cysteine / genetics
  • DNA-Formamidopyrimidine Glycosylase
  • Esophageal Neoplasms / ethnology
  • Esophageal Neoplasms / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • N-Glycosyl Hydrolases / genetics*
  • Polymorphism, Genetic
  • Risk Factors
  • Serine / genetics


  • Serine
  • N-Glycosyl Hydrolases
  • DNA-Formamidopyrimidine Glycosylase
  • Cysteine