Investigating the role of telomerase reverse transcriptase rs2736100 single nucleotide variant in susceptibility to chronic myeloid leukemia: a retrospective case-control study

Abstract

Background
Telomerase activity abnormalities were found to be crucial in the progression of cancer. A correlation was discovered between the variant rs2736100 of the telomerase reverse transcriptase (TERT) gene, which encodes the telomerase catalytic subunit, and the risk of developing various types of cancer, including myeloproliferative neoplasms (MPNs).
Most studies have reported this relationship in Philadelphia’s negative MPNs. However, very few studies have investigated this role in chronic myeloid leukemia (CML), which is a type of MPN that is characterized by abnormal granulocytic proliferation due to BCR-ABL driver mutation.
The present study aimed to assess the association between the TERT rs2736100 single nucleotide variant and susceptibility to CML in a cohort of Egyptian population.


Methodology
This is a retrospective case-control study that included 80 participants; 40 CML patients confirmed to be positive for BCR-ABL mutation and 40 age- and sex-matched controls. The genomic DNA of the TERT variant was analyzed via real-time PCR (q RT-PCR) allelic discrimination with a TaqMan assay.


Results
Our result revealed that there was no statistically significant difference in the incidence of the AA, AC and CC alleles or frequencies of TERT rs 2736100 genotypes among the CML patients. and control groups (P value = >0.05).


Conclusion
The TERT rs2736100 single nucleotide variant was not demonstrated to influence CML susceptibility. A larger sample size with the inclusion of more genetic variants is recommended.