Interleukin 1B rs16944 G>A polymorphism was associated with a decreased risk of esophageal cancer in a Chinese population

Clin Biochem. 2013 Oct;46(15):1469-73. doi: 10.1016/j.clinbiochem.2013.05.050. Epub 2013 May 29.


Objective: Esophageal cancer is the sixth leading cause of cancer-associated deaths worldwide and represents a particularly aggressive type of cancer. Genetic polymorphisms may partly explain individual differences in esophageal cancer susceptibility.

Designs and methods: We conducted a hospital-based case-control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs) in the interleukin 1 (IL1A and IL1B), IL1f7, IL3 and IL7Ra genes on the development of esophageal cancer. A total of 380 esophageal squamous cell carcinoma (ESCC) cases and 380 controls were recruited for this study. The genotypes were determined using a custom-by-design 48-Plex SNPscan™ Kit.

Results: When the IL1B rs16944 GG homozygote genotype was used as the reference group, the GA genotype was associated with a significantly decreased risk of ESCC (GA vs. GG: adjusted OR=0.69, 95% CI=0.49-0.99, p=0.041). However, there were no significant associations between the other five SNPs and ESCC risk. Stratified analyses indicated no significantly different risks of ESCC associated with the IL1B rs16944 G>A polymorphism according to sex, age, smoking status or alcohol consumption. IL3 rs2073506 G>A polymorphism was associated with an increased risk for ESCC higher tumor, nodal, and metastatic (TNM) stages.

Conclusions: These findings indicated that the functional IL1B rs16944 G>A polymorphism might contribute to ESCC susceptibility. IL3 rs2073506 G>A polymorphism was associated with an increased risk for ESCC higher TNM stages. However, the results were based on a limited sample size and larger well-designed studies are warranted to confirm these initial findings.

Keywords: CI; Esophageal cancer; IL1B; LD; Molecular epidemiology; OR; Polymorphisms; SNPs; confidential interval; interleukin 1 beta; linkage disequilibrium; odds ratio; single nucleotide polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Aged
  • Alcohol Drinking
  • Asian People
  • Carcinoma, Squamous Cell / ethnology
  • Carcinoma, Squamous Cell / genetics*
  • Case-Control Studies
  • Esophageal Neoplasms / ethnology
  • Esophageal Neoplasms / genetics*
  • Esophageal Squamous Cell Carcinoma
  • Female
  • Genetic Association Studies
  • Genotype
  • Homozygote
  • Humans
  • Interleukin-1beta / genetics*
  • Interleukin-3 / genetics*
  • Male
  • Middle Aged
  • Neoplasm Staging
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Risk
  • Sex Factors
  • Smoking


  • IL3 protein, human
  • Interleukin-1beta
  • Interleukin-3