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

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 previously reported to be associated with the risk of MPNs. Herein, we performed a meta-analysis to confirm the relationship between the TERT rs2736100A>C polymorphism and MPN susceptibility. 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 using different genetic models. 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 the 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]). In this meta-analysis, we confirm an 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.