Leukocyte Telomere Length Shortening, hTERT Genetic Polymorphisms and Risk of Childhood Acute Lymphoblastic Leukemia

Document Type : Research Articles


1 Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.

2 Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.

3 Department of Pediatrics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.

4 Department of Immunology, School of Medicine, Kerman University of Medical Sciences, Kerman, Iran.


Background: Telomeres are involved in chromosomal stability, cellular immortality and tumorigenesis. Human
telomerase reverse transcriptase (TERT) is essential for the maintenance of telomere DNA length. Recently, a variable
tandem-repeats polymorphism, MNS16A, located in the downstream region of the TERT gene, was reported to have
an effect on TERT expression and telomerase activity. Previous studies have linked both relative telomere length
(RTL) and TERT variants with cancer. Therefore, we evaluated associations between RTL, TERT gene polymorphisms
(hTERT, rs2735940 C/T and MNS16A Ins/Del) and risk of childhood acute lymphoblastic leukemia (ALL) in an Iranian
population. Methods: RTL was determined by a multiplex quantitative PCR-based method, and variants of the hTERT,
rs2735940 C/T and MNS16A Ins/Del, were genotyped by amplification refractory mutation system PCR (ARMS-PCR),
and PCR, respectively. Results: Our results indicated that RTL was shorter in ALL patients (1.53±0.12) compared to
the control group (2.04±0.19) (P=0.029). However, no associations between hTERT gene variants or haplotypes and
the risk of childhood ALL were observed (P>0.05). Also hTERT polymorphisms were not associated with RTL or
patient clinicopathological characteristics, including age (P=0.304), sex (P=0.061) organomegally (P=0.212) CSF
involvement (P=0.966) or response to treatment (P=0.58). Conclusions: We found that telomere attrition may be
related to the pathogenesis of childhood ALL, irrespective to TERT variants.


Main Subjects