Association of polymorphisms in MALAT1 with the risk of esophageal squamous cell carcinoma in a Chinese population

Objective: The main aim of this study was to investigate the association of polymorphisms in long non-coding RNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) with the risk of esophageal squamous cell carcinoma (ESCC) in a Chinese population. Methods: A total of 245 ESCC patients and 490 gender-and age-matched cancer-free controls were genotyped for four tag single nucleotide polymorphisms (SNPs) of MALAT1 (rs3200401 C>T, rs1122709 C>G, rs664589 C>G, and rs619586 A>G). Statistical analyses including chi-squared test and logistic regression were performed to identify the association between the tag SNPs and risk of ESCC, and false discovery rate (FDR) <25% was applied to adjust for multiple comparisons. Results: We found that rs3200401 C>T polymorphism of MALAT1 was significantly associated with increased risk of ESCC (CT vs CC: adjusted OR = 1.59, 95% CI = 1.07-2.35, P=0.021; TT vs CC: adjusted OR = 2.27, 95% CI = 1.04-4.96, P= 0.039; dominant model [CT+TT vs CC]: adjusted OR = 1.68, 95% CI = 1.16-2.43, P= 0.006). In the stratified analysis, rs3200401 TT and CT/TT genotypes were associated with increased risk of ESCC compared with CC genotype in subgroup of never drinking (TT vs CC: adjusted OR = 2.34, 95% CI = 1.02-5.34, P= 0.044; CT/TT vs CC: adjusted OR = 1.52, 95% CI = 1.02-2.26, P= 0.041). However, compared with AA genotype, MALAT1 rs619586 GG was associated with decreased risk of ESCC in ever drinking subgroup (GG vs AA: adjusted OR = 0.38, 95% CI = 0.15-0.99, P= 0.049). The results remained significant after FDR adjustment (FDR value <0.25) except for the comparison between rs619586 GG and AA genotype in ever drinking subgroup. Conclusion: Taken together, our findings proposed that polymorphism rs3200401 C.>T in MALAT1 gene is associated with increased risk of ESCC. Since the association between rs619586 A>G polymorphism and ESCC risk was not significant after FDR adjustment, there was a minor possibility that rs619586 A>G might be a protective factor for ESCC.