Associations of MALAT1 and its functional single nucleotide polymorphisms with cancer

Abstract

Background: Systematic research on the associations between vital single nucleotide polymorphisms (SNPs) in MALAT1 and cancer risk was still lacking. Thus, we performed this study.

Materials and methods: The literature searches were until April 1, 2022. The pooled association-analysis results were assessed by odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) in three genetic models. In addition, we explored the potential functions of MALAT1 and its vital SNPs based on several public websites.

Results: Eighteen articles about four SNPs (rs619586, rs664589, rs1194338, and rs3200401) involving 11,843 cancer cases and 14,682 controls were collected. Rs619586, rs664589, and rs1194338 were associated with cancer risk (all P-value < 0.05). Each SNP of the three was significantly related to the risk of colorectal cancer (CRC), and rs619586 correlated with hepatocellular carcinoma (HCC) risk (all P-value < 0.05). The three SNPs might affect the transcription factor, promoter, or enhancer functions. MALAT1 expressed significantly higher in CRC and HCC than in normal tissues. The respective area under the receiver operating characteristic curve of MALAT1 for CRC and HCC patients was 0.783 and 0.864. Moreover, survival analysis indicated that MALAT1 might be a potential prognostic marker of CRC and HCC (all relevant P-value < 0.05).

Conclusions: The functional SNPs in MALAT1 correlated with cancer risk. MALAT1 and its vital functional SNPs might be potential biomarkers for predicting the risk and prognosis of two types of cancer, especially CRC. Further investigations are needed to confirm our present findings.

Keywords: Cancer; LncRNA; MALAT1; Meta-analysis; Polymorphism.