The TERT rs2736100 Polymorphism and Susceptibility to Myeloproliferative Neoplasms: A Systematic Review and Meta-Analysis.

Introduction: The classification of myeloproliferative neoplasms (MPN) is currently based on the genotype. Thus, to achieve better diagnostic and prognostic outcomes, it is necessary to further investigate the genetic spectrum underlying the pathogenesis of MPNs. The rs2736100A>C is a functional single nucleotide polymorphism in the telomerase reverse transcriptase (TERT) gene that has been reported to be associated with the risk of MPNs previously. Herein, we performed a meta-analysis to confirm the relationship between the TERT rs2736100A>C polymorphism and MPN susceptibility. Materials and Methods: Studies of case-control design were acquired from online databases with specific inclusion criteria. Odds ratios (ORs) with 95% confidence intervals (95% CI) were estimated to evaluate the association between the TERT rs2736100 polymorphism and MPN susceptibility in using different genetic models. Results: Ten case-control studies involving 3488 cases and 57,948 controls were examined. Overall, there was a significant association between the TERT rs2736100 polymorphism and risk of MPNs (allele model [C vs. A]: OR = 1.57 [95% CI: 1.47-1.69]; homozygous model [CC vs. AA]: OR = 3.00 [95% CI: 2.40-3.76]; heterozygous model [AC vs. AA]: OR = 2.17 [95% CI: 1.77-2.66]; dominant model [CC+AC vs. AA]: OR = 2.43 [95% CI: 2.00-2.95]; and recessive model [CC vs. AC+AA]: OR = 1.73 [95% CI: 1.47-2.04]). Conclusions: In this meta-analysis, we confirm that the association between the TERT rs2736100A>C polymorphism and MPN susceptibility under all genetic models evaluated. The TERT rs2736100A>C allele increases the overall risk of MPN. Further studies are warranted to determine the functional role of the TERT rs2736100 polymorphism in MPN.