<p>Association of polymorphisms in MALAT1 with the risk of esophageal squamous cell carcinoma in a Chinese population</p>

Abstract

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.

Association Between LncRNA MALAT1 Polymorphisms and Cancer Risk: A Meta-Analysis Based on7007 Cases and 8791 Controls

“…However, rs3200401 polymorphism was associated with an increased risk of digestive cancers. Similarly, Qu et al found that rs3200401 C > T was associated with increased risk of ESCC [19]. Conversely, it had been reported that rs3200401 T allele was associated with a better survival for advanced lung adenocarcinoma patients [33].…”

“…It's reported that rs664589 was associated with increased colorectal cancer susceptibility [30]. Other studies have mentioned that rs664589 polymorphisms were not associated with ESCC risk and coronary atherosclerotic heart disease [19,35]. Only a borderline signi cation was found between rs664589 polymorphism and cancer risk.…”

“…Based on the selection criteria, 12 studies [17][18][19][20][21][25][26][27][28][29][30][31] were included in this meta-analysis ( Fig. 1).…”

“…More and more studies have found that MALAT1 is abnormally overexpressed in various tumors, suggesting the critical role in the tumorigenesis [12,15,16]. It has been reported that genetic variants of lncRNA MALAT1 were associated with increased risk of some cancers [17][18][19]. On the contrary, MALAT1 rs619586 and rs1194338 showed a decreased effect on hepatocellular carcinoma and colorectal cancer [20,21].…”

Association of polymorphisms in MALAT1 with the risk of endometrial cancer in Southern Chinese women

“…In recent years, increasing evidence has indicated that lncRNAs play 24 or coronary atherosclerotic heart disease. 25 We found that the MALAT1 rs664589 C>G polymorphism was significantly associated with increased endometrial cancer risk.…”