Purpose: Genetic studies of diffuse large B-cell lymphoma (DLBCL) may serve to clarify disease pathogenesis and mark at-risk populations. Evidence of long telomeres and high telomerase activity have been demonstrated in DLBCL. We aimed to examine human telomerase gene ( hTERT) MNS16A variable number of tandem repeats and hTERT rs2736098: G>A polymorphisms in relation to DLBCL susceptibility.
Methods: In a case control study, 71 patients with DLBCL and 156 controls were genotyped for MNS16A using polymerase chain reaction and hTERT rs2736098: G>A using polymerase chain reaction restriction fragment length polymorphism.
Results: In both codominant and recessive models, there was a significant difference in the distribution of MNS16A genotypes between patients with DLBCL and controls (p = 0.047 and p = 0.018, respectively). In both models, carriers of S/S genotype were at higher risk to develop DLBCL (odds ratio [OR] 2.51, 95% confidence interval [CI] 1.19-5.29 and OR 2.19, 95% CI 1.15-4.17, respectively). In the log-additive model, each copy of S allele significantly increased DLBCL risk in an additive form (p = 0.018, OR 1.57, 95% CI 1.08-2.29). The frequency distribution of MNS16A S alleles was significantly higher in patients than controls (p = 0.012). Carriers of S alleles were at higher risk to develop DLBCL than carriers of L alleles (OR 1.67, 95% CI 1.12-2.49). hTERT rs2736098: G>A genotype distribution did not differ significantly between patients with DLBCL and controls.
Conclusions: MNS16A genetic variations are associated with DLBCL susceptibility.
Keywords: Diffuse large B-cell lymphoma; MNS16A; Susceptibility; hTERT rs2736098.