Research Papers:

Associations between novel genetic variants in the promoter region of MALAT1 and risk of colorectal cancer

Yingjun Li, Chengzhen Bao, Simeng Gu, Ding Ye, Fangyuan Jing, Chunhong Fan, Mingjuan Jin and Kun Chen _

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Oncotarget. 2017; 8:92604-92614. https://doi.org/10.18632/oncotarget.21507

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Yingjun Li1,2, Chengzhen Bao1, Simeng Gu1, Ding Ye1, Fangyuan Jing2, Chunhong Fan2, Mingjuan Jin1 and Kun Chen1

1Department of Epidemiology and Health Statistics, Zhejiang University School of Public Health, Hangzhou, China

2Department of Public Health, Hangzhou Medical College, Hangzhou, China

Correspondence to:

Kun Chen, email: [email protected]

Keywords: lncRNA, MALAT1, genetic variants, colorectal cancer

Received: March 01, 2017     Accepted: August 29, 2017     Published: October 04, 2017


The metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), 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 MALAT1 and colorectal cancer risk. In this study, we conducted a two-stage case-control study to evaluate whether MALAT1 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 MALAT1 mRNA in colorectal cancer tissue compared with normal controls. Confirmation studies with large sample size and further mechanistic investigations into the function of MALAT1 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.

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