Human TERT promoter polymorphism rs2853669 is associated with cancers: an updated meta-analysis

Hum Cell. 2021 Jul;34(4):1066-1081. doi: 10.1007/s13577-021-00520-4. Epub 2021 Mar 20.


The polymorphism rs2853669 in the telomerase reverse transcriptase gene (TERT) promoter region is widely investigated for the risk of different cancers. However, previous results remained inconclusive. Thus, we performed this updated meta-analysis to comprehensively evaluate the association between rs2853669 and the susceptibility of human cancer. A systematic literature search via PubMed, EMBASE, Cochrane Library, and Web of Science databases was conducted that produced a total of 19 eligible studies containing 23,085 subjects. The relationship was calculated with the odds ratio (OR) and 95% confidence intervals (CIs). Statistical analyses were performed using the RevMan 5.4 software. The analysis indicated that rs2853669 is associated with an enhanced risk of overall cancer risk. From subgroup analysis, a significantly increased association in five genetic models (p < 0.05) was found among Asians, but no association was observed in Caucasians. Although we did not find any significant correlation between rs2853669 and breast cancer, an increased and statistically significant association was found for both lung cancer and acute myeloid leukemia. We did not find any association in other cancer types during stratified analysis. Our meta-analysis suggests that rs2853669 polymorphism in TERT gene is associated with an increased risk of overall cancer susceptibility, particularly in the Asian population. Moreover, rs2853669 is significantly associated with lung cancer and acute myeloid lymphoma. However, large-scale studies are needed to confirm our findings.

Keywords: Cancer; Genetic polymorphism; Meta-analysis; Rs2853669; TERT.

Publication types

  • Meta-Analysis
  • Systematic Review

MeSH terms

  • Asian People / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Lung Neoplasms / genetics
  • Lymphoma / genetics
  • Models, Genetic
  • Neoplasms / genetics*
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics
  • Risk
  • Telomerase / genetics*


  • TERT protein, human
  • Telomerase