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Evaluation of possible role of the hTERT gene rs2853669 polymorphism in the development of colorectal cancer as a genetic risk factor
Nucleosides, Nucleotides & Nucleic Acids ( IF 1.1 ) Pub Date : 2022-06-15 , DOI: 10.1080/15257770.2022.2086694
Berrin Yalınbaş Kaya 1 , Yakup Ülger 2
Affiliation  

Abstract

Colorectal cancer (CRC) is the second deadliest malignancy. Human telomerase reverse transcriptase (hTERT) gene has been identified as one of the potential cancer susceptibility genes. We evaluated the relationship between the risk of CRC and CRC’s clinicopathological features of the hTERT rs2853669 (A > G/T > C, by the chain direction) polymorphism in Turkish population. The rs2853669 polymorphism was investigated with the LightCycler 96 device in 100 CRC patients and 327 controls. We found that the rs2853669 polymorphism AG/GG genotypes in genetic models reduced the risk of CRC. However, there was no significant relationship between rs2853669 polymorphism and clinicopathological features of CRC in studied population. The results of this study showed that the risk of colorectal cancer is significantly reduced in the individuals having the G (C) allele. Our recommendation is to analyze the hTERT gene expression by studying the hTERT promoter mutations with this polymorphism in colorectal cancer.



中文翻译:

评估 hTERT 基因 rs2853669 多态性在结直肠癌发展中作为遗传风险因素的可能作用

摘要

结直肠癌 (CRC) 是第二大致命的恶性肿瘤。人类端粒酶逆转录酶(h TERT)基因已被确定为潜在的癌症易感基因之一。我们评估了 CRC 风险与 h TERT的 CRC 临床病理学特征之间的关系2853669(A > G/T > C,按链方向)土耳其人群中的多态性。使用 LightCycler 96 设备在 100 名 CRC 患者和 327 名对照中研究了 rs2853669 多态性。我们发现遗传模型中的 rs2853669 多态性 AG/GG 基因型降低了 CRC 的风险。然而,研究人群中 rs2853669 多态性与 CRC 的临床病理特征之间没有显着相关性。这项研究的结果表明,具有 G (C) 等位基因的个体患结直肠癌的风险显着降低。我们的建议是通过研究结直肠癌中具有这种多态性的 hTERT 启动子突变来分析 hTERT 基因表达。

更新日期:2022-06-15
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