Epiregulin rs1460008 A>G polymorphism is associated with decreased risk of esophageal squamous cell carcinoma in a Chinese population

Objective: This study is to investigate the associations of epiregulin (EREG) and DEC1 polymorphisms with risk of esophageal squamous cell carcinoma (ESCC) in a Chinese population. Methods: A total of 629 ESCC patients and 686 normal control subjects were recruited. Genotypes were determined using the ligation detection reaction method. Associations of single nucleotide polymorphisms (SNPs) with ESCC risk were analyzed with the logistic regression analysis. Results: ESCC and control groups were adequately matched regarding age and sex, while significant differences were noted for the smoking and drinking status. Based on SNP genotyping, compared with the EREG rs1460008 AA homozygote genotype, the GG genotype was not associated with ESCC risk, while the AG genotype was associated with decreased ESCC risk. In the dominant model, the EREG rs1460008 AG/GG variants were associated with the decreased risk of ESCC. In the recessive model, when the EREG rs1460008 AA/AG genotypes were used as reference, the GG homozygote genotype was not significantly associated with ESCC risk. Moreover, our results revealed no association of the DEC1 rs4978620 T>C, rs2269700 T>C, and rs3750505 G>A polymorphisms with ESCC risk. Stratification analysis showed that, significantly decreased risk of ESCC was associated with the EREG rs1460008 A>G polymorphism, especially for older female subjects with no smoking and drinking habits. Conclusion: EREG rs1460008 A>G genotype is associated with decreased ESCC risk in the studied Chinese population, which might contribute to the understanding of the role of SNP in the disease pathogenesis.