Background: As one of the common malignant tumors, esophageal cancer has significant heterogeneity in morbidity and mortality between gender, geographic distribution, race and histology. We used single nucleotide polymorphism (SNP) to identify disease-related alleles, and to explore the relationship between gene variations and esophageal cancer susceptibility in northwest China.
Methods: Six candidate SNPs (rs13177623, rs12654195, rs11168100, rs353303, rs353300, rs353299) selected from cancer related gene Cardiac mesoderm enhancer-associated non-coding RNA (CARMN) were genotyped by Agena MassARRAY platform. SPSS 18.0 software was used for logistic regression analysis of genotyping results, and Haploview 4.2 software was utilized for linage disequilibrium (LD) analysis.
Results: We observed a significant association between genotype TT of rs353299 and the decreasing esophageal cancer risk (OR = 0.42, 95% CI = 0.18-0.97, p = 0.042). The stratified analysis revealed that the influence of three CARMN polymorphisms (rs11168100, rs353300 and rs353299) on esophageal cancer risk is age-, gender-, smoking-, drinking- and lymph node metastasis status- dependent (p < 0.05). Haplotype analysis results indicated that TATC acts as a protective factor of esophageal cancer with OR of 0.71 (95% CI = 0.52-0.98, p = 0.038), while AGC and AA have 1.49-fold (OR = 1.49, 95% CI = 1.02-2.19, p = 0.041) and 1.57-fold (OR = 1.57, 95% CI = 1.05-2.35, p = 0.027) increased risk of esophageal cancer, respectively.
Conclusion: The results of our study suggested that CARMN variations may affect the risk of esophageal cancer.
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