Association study of genetic variation of lncRNA MALAT1 with carcinogenesis of colorectal cancer

INTRODUCTION: Colorectal cancer (CRC) remains a major public health concern worldwide. However, the detailed molecular mechanisms of CRC remain poorly understood. METHODS: In the current study, we evaluated associations of four genetic variants located in the promoter and gene region of long noncoding RNAs metastasis-associated lung adenocarcinoma transcript 1 (lncRNA MALAT1) with CRC susceptibility among a Chinese population with 966 CRC cases and 988 healthy controls, using a two-stage, case–control study design (400 CRC cases and 400 controls in stage 1, and 566 CRC cases and 588 controls in stage 2). RESULTS: We found that the minor alleles of rs619586 (OR=0.73; 95% CI=0.60–0.88; P=0.001) and rs1194338 (OR=0.80; 95% CI=0.70–0.92; P=0.001) were significantly associated with decreased CRC susceptibility. Compared with those with rs619586 −AA genotype, the risk of CRC was significantly lower in individuals with AG genotype (OR=0.76; 95% CI=0.61–0.95) and GG genotype (OR=0.46; 95% CI=0.23–0.90). Compared with those with rs1194338 −CC genotype, the risk of CRC was significantly lower in individuals with AC genotype (OR=0.79; 95% CI=0.65–0.95) and AA genotype (OR=0.68; 95% CI=0.51–0.89). CONCLUSION: Taken together, our findings provided strong evidence for the hypothesis that genetic variants in lncRNA MALAT1 might contribute to the carcinogenesis of CRC.