Abstract
AIMS: This study aims to evaluate the impact of four SNPs of interleukin-10 (IL- 10) gene, and the interaction with the environmental factors on the risk of esophageal cancer (EC) based on a Chinese Han population. METHODS: Hardy-Weinberg equilibrium (HWE) and the relationship between four SNPs of IL-10 gene and EC risk was tested using SNPStats online software ( https://www.snpstats.net/start.htm ). Generalized multifactor dimensionality reduction (GMDR) was employed to screen the best interaction combinations among four SNPs, smoking and alcohol drinking. RESULTS: Logistic regression found that rs1800872-A allele was associated with increased EC risk, ORs (95%CI) was 1.62 (1.19-2.06) for CA genotype and 2.13 (1.48-2.81) for AA genotype, compared to CC genotype, and 1.74 (1.28-2.25) for A allele compared to C allele. We also found that rs1800896- A allele was associated with increased EC risk, ORs (95%CI) was 1.59 (1.24-1.97) for GA genotype and 1.97 (1.36-2.63) for AA genotype, compared to GG genotype, and 1.65 (1.28-2.06) for A allele compared to G allele. GMDR model found a significant gene- environment combination (two-locus model with p = 0.0107) between rs1800896 and smoking. Compared to non- smokers with rs1800896 -GG genotype, smokers with rs1800896- GA + AA genotype of IL- 10 gene have the highest EC risk, OR (95%CI) = 3.76 (1.71-5.83). CONCLUSIONS: The rs1800872-A and rs1800896- A alleles were associated with increased EC risk. Interaction existed between rs1800896 and smoking on EC risk.