Essa Enas S, Alagizy Hagar A
1 Department of Clinical Pathology, Faculty of Medicine, Menoufia University, Shebein ElKom, Menoufia - Egypt.
2 Department of Clinical Oncology, Faculty of Medicine, Menoufia University, Shebein ElKom, Menoufia - Egypt.
Tumori. 2018 Jun;104(3):165-171. doi: 10.5301/tj.5000653. Epub 2018 May 8.
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.
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.
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.
MNS16A genetic variations are associated with DLBCL susceptibility.
弥漫性大B细胞淋巴瘤（DLBCL）的遗传学研究有助于阐明疾病发病机制并识别高危人群。已有证据表明DLBCL存在长端粒和高端粒酶活性。我们旨在研究人类端粒酶基因（hTERT）MNS16A串联重复序列可变数目以及hTERT rs2736098：G>A多态性与DLBCL易感性的关系。
在一项病例对照研究中，对71例DLBCL患者和156例对照进行聚合酶链反应基因分型检测MNS16A，采用聚合酶链反应-限制性片段长度多态性检测hTERT rs2736098：G>A。
在共显性和隐性模型中，DLBCL患者与对照之间MNS16A基因型分布存在显著差异（分别为p = 0.047和p = 0.018）。在这两种模型中，S/S基因型携带者发生DLBCL的风险更高（优势比[OR]分别为2.51，95%置信区间[CI] 1.19 - 5.29和OR 2.19，95% CI 1.15 - 4.17）。在对数加性模型中，S等位基因的每个拷贝以加性形式显著增加DLBCL风险（p = 0.018，OR 1.57，95% CI 1.08 - 2.29）。患者中MNS16A S等位基因频率分布显著高于对照（p = 0.012）。S等位基因携带者发生DLBCL的风险高于L等位基因携带者（OR 1.67，95% CI 1.12 - 2.49）。DLBCL患者与对照之间hTERT rs2736098：G>A基因型分布无显著差异。
MNS16A基因变异与DLBCL易感性相关。
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