Department of Laboratory, Haikou People's Hospital.
Department of Integrated Traditional Chinese and Western Medicine, West China Hospital of Sichuan University.
Tohoku J Exp Med. 2024 Jun 28;263(2):89-95. doi: 10.1620/tjem.2024.J008. Epub 2024 Feb 1.
The catalytic subunit telomerase reverse transcriptase (hTERT) is a prerequisite for malignant transformation of human cells. Colorectal cancer (CRC) is a common malignant tumor. The genetic association of hTERT gene rs2853669 and rs2736098 polymorphisms with CRC was surveyed in the Chinese population. Two hundreds patients with CRC and 200 healthy controls were taken for blood sample collection. Sanger sequencing was applied for genotyping. Multiple logistic regression analysis was performed, and odds ratio (OR) together with confidence interval (CI) were calculated to obtain the corresponding association power. Among CRC cases (49.50%), hTERT gene rs2736098 GA genotype carriers were more prevalent compared with the control group (41.00%, P = 0.035), which increased the risk of CRC by 1.576 times (95% CI, 1.031-2.409). Distribution of the rs2736098 genotypes was significantly associated with TNM stage, tumor differentiation, tumor size and lymph node metastasis (P < 0.05). The frequencies of hTERT gene rs2853669 polymorphism were not significantly different between CRC patients and healthy controls. Logistic regression analysis indicated that both body mass index (BMI) and hTERT gene rs2736098 polymorphism remained significantly correlated with CRC susceptibility. The frequencies of hTERT gene rs2853669 polymorphism did not differ significantly between CRC patients and control group (P > 0.05). The hTERT gene rs2736098 polymorphism was correlated with CRC risk in the Chinese Han population, and the GA genotype was a risk element for the onset of CRC.
端粒酶逆转录酶（hTERT）的催化亚基是人类细胞恶性转化的必要条件。结直肠癌（CRC）是一种常见的恶性肿瘤。在中国人中，调查了 hTERT 基因 rs2853669 和 rs2736098 多态性与 CRC 的遗传关联。采集了 200 例 CRC 患者和 200 例健康对照者的血液样本。应用 Sanger 测序进行基因分型。进行了多因素逻辑回归分析，并计算了比值比（OR）及其置信区间（CI），以获得相应的关联强度。在 CRC 病例（49.50%）中，hTERT 基因 rs2736098GA 基因型携带者比对照组（41.00%，P=0.035）更为常见，这使 CRC 的发病风险增加了 1.576 倍（95%CI，1.031-2.409）。rs2736098 基因型的分布与 TNM 分期、肿瘤分化、肿瘤大小和淋巴结转移显著相关（P<0.05）。CRC 患者和健康对照组 hTERT 基因 rs2853669 多态性的频率无显著差异。逻辑回归分析表明，体重指数（BMI）和 hTERT 基因 rs2736098 多态性均与 CRC 易感性显著相关。CRC 患者和对照组 hTERT 基因 rs2853669 多态性的频率无显著差异（P>0.05）。hTERT 基因 rs2736098 多态性与中国汉族人群 CRC 风险相关，GA 基因型是 CRC 发病的危险因素。
