Association between HOTAIR genetic polymorphisms and cancer susceptibility: A meta-analysis involving 122,832 subjects

Genomics. 2020 Sep;112(5):3036-3055. doi: 10.1016/j.ygeno.2020.05.018. Epub 2020 May 23.


The association between polymorphisms in HOTAIR gene and cancer susceptibility has been analyzed intensively, but the conclusions are inconsistent. Therefore, we carried out a meta-analysis aiming to assess the relationship exactly. Eligible studies were searched in PubMed and Embase databases up to October 31, 2019. Odds ratios with 95% confidence intervals were used to assess the strength of association. Sensitivity analysis and publication bias were applied to evaluate the reliability of the study. Moreover, TSA was conducted to estimate the robustness of the results. Totally, 116 studies involving 122,832 subjects were analyzed in our meta-analysis. Significant increased risk of cancer was detected for the rs4759314, rs920778, rs1899663, rs12826786 and rs874945 polymorphisms. Further subgroup analyses according to cancer type revealed that different polymorphisms were associated with the risk of specific type of cancer. For example, the rs4759314 polymorphism was significantly associated with the risk of estrogen-dependent cancer, whereas the rs920778 polymorphism was associated with the risk of gastrointestinal cancer. In conclusion, our findings indicated that the rs4759314, rs920778, rs1899663, rs12826786 and rs874945 polymorphisms in HOTAIR may serve as genetic biomarkers of cancer.

Keywords: Cancer risk; HOTAIR; Meta-analysis; Polymorphism; Trial sequential analysis.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Genetic Predisposition to Disease
  • Humans
  • Neoplasms / genetics*
  • Polymorphism, Single Nucleotide*
  • RNA, Long Noncoding / genetics*


  • HOTAIR long untranslated RNA, human
  • RNA, Long Noncoding