LAUSR

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 Trs11168100Ars353303Trs353300Crs353299 acts as a protective factor of esophageal cancer with OR of 0.71 (95% CI=0.52-0.98, p=0.038), while Ars11168100Grs353303Crs353300 and Ars11168100Ars353303 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.