Abstract
BackgroundThe aim of this study was to investigate the association between telomerase reverse transcriptase (TERT) gene polymorphisms and acute myeloid leukemia (AML) susceptibility in a Chinese Han population.MethodsA total of 102 AML patients and 108 healthy controls were enrolled in this case–control study. TERT gene rs2853669 and rs2736100 polymorphisms were genotyped via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Chi-square test was applied to compare polymorphism distributions between case and control groups. The strength of the association between TERT gene polymorphisms and AML susceptibility was evaluated utilizing odds ratio (OR) with corresponding 95% confidence interval (CI).ResultsCC genotype and C allele of rs2736100 polymorphism were more frequent in AML patients (P < 0.05), and individuals carrying CC genotype showed higher risk of suffering from AML (OR = 2.632, 95% CI 1.129–6.133). But for rs2853669 polymorphism, no significant differences were detected in either genotype or allele distributions between groups (P > 0.05).ConclusionsThis study suggested a positive association between TERT gene rs2736100 polymorphism and AML susceptibility in Chinese Han population.
Highlights
The aim of this study was to investigate the association between telomerase reverse transcriptase (TERT) gene polymorphisms and acute myeloid leukemia (AML) susceptibility in a Chinese Han population
Human TERT gene is located on chromosome 5p15.33, and several single nucleotide polymorphisms (SNPs) have been identified in this gene
Mosrati et al [13] have explored the association between TERT polymorphisms and AML susceptibility, focusing on several SNPs, among which only two SNPs showed significant association
Summary
The aim of this study was to investigate the association between telomerase reverse transcriptase (TERT) gene polymorphisms and acute myeloid leukemia (AML) susceptibility in a Chinese Han population. AML is characterized by rapid proliferation of leukemic blasts [2]. It can result in abnormal accumulation of immature cells and the suppression of normal. Abnormal activity of telomerase has been reported to be involved in cancer initiation and development, and telomere length shows negative association with cancer incidence and mortality [10]. Numbers of studies have discussed association between TERT gene SNPs and the risks of various cancers, including breast, lung, colorectal, ovarian, prostate, and gastric cancers [11, 12]. Genetic association has not been reported in Chinese Han population
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