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评估 h 基因 2853669 多态性在结直肠癌发展中作为遗传风险因素的可能作用。

Evaluation of possible role of the h gene 2853669 polymorphism in the development of colorectal cancer as a genetic risk factor.

机构信息

Department of Gastroenterology, Eskişehir City Hospital, Eskişehir, Turkey.

Faculty of Medicine, Department of Gastroenterology, Çukurova University, Adana, Turkey.

出版信息

Nucleosides Nucleotides Nucleic Acids. 2022;41(10):961-971. doi: 10.1080/15257770.2022.2086694. Epub 2022 Jun 15.

DOI:10.1080/15257770.2022.2086694
PMID:35704667
Abstract

Colorectal cancer (CRC) is the second deadliest malignancy. Human telomerase reverse transcriptase (h 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 h2853669 (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.

摘要

结直肠癌(CRC)是第二大致命性恶性肿瘤。人端粒酶逆转录酶(h 基因已被确定为潜在的癌症易感性基因之一。我们评估了 h2853669(A > G/T > C,按链方向)多态性与土耳其人群 CRC 的风险和 CRC 的临床病理特征之间的关系。使用 LightCycler 96 设备在 100 例 CRC 患者和 327 例对照中研究了 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,在研究人群中,rs2853669 多态性与 CRC 的临床病理特征之间没有显著关系。这项研究的结果表明,携带 G(C)等位基因的个体患结直肠癌的风险显著降低。我们的建议是通过研究 hTERT 启动子突变与该多态性在结直肠癌中的关系来分析 hTERT 基因的表达。

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