Association of MNS16A VNTR and hTERT rs2736098: G>A polymorphisms with susceptibility to diffuse large B-cell lymphoma

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.