Associations between novel genetic variants in the promoter region of<i>MALAT1</i>and risk of colorectal cancer

Abstract

The metastasis-associated lung adenocarcinoma transcript 1 (<i>MALAT1</i>), a well-known long non-coding RNA, is involved in pathogenesis and progress of multiple tumors. However, no study has been performed to investigate the relationship between the genetic variants in promoter region of <i>MALAT1</i> and colorectal cancer risk. In this study, we conducted a two-stage case-control study to evaluate whether <i>MALAT1</i> genetic variants were associated with colorectal cancer risk. We identified that a single nucleotide polymorphism (SNP) rs1194338 was significantly associated with the decreased colorectal cancer risk with an odds ratio (OR) of 0.70 [95% confidence interval (CI) = 0.49-0.99] in the combined stage. The subsequently stratified analyses showed that the protective effect of rs1194338 was more pronounced in several subgroups. Furthermore, gene expression profiling analysis revealed overexpression of <i>MALAT1</i> mRNA in colorectal cancer tissue compared with normal controls. Confirmation studies with large sample size and further mechanistic investigations into the function of <i>MALAT1</i> and its genetic variants are warranted to advance our understanding of their roles in colorectal carcinogenesis, and to aid in the development of novel and targeted therapeutic strategies.