hTERT基因多态性与结肠癌遗传易感性研究

Relationship between hTERT Gene Polymorphisms and Genetic Susceptibility to Colon Cancer

目的 本研究旨在探讨人端粒酶逆转录酶(hTERT)基因rs2853676和rs2853677位点单核苷酸多态性(SNPs)与结肠癌遗传易感性的关系。方法 2017年1月-2018年12月在烟台业达医院采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对186例结肠癌患者、194例结肠腺瘤患者、随机匹配的406例健康体检行结肠镜检查未见明显异常者进行基因多态性分析。结果 rs2853676位点各基因型在病例组和对照组中的频率分布差异无统计学意义(P>0.05),结肠癌组rs2853677位点CC基因型频率显著高于健康对照组(17.74% vs 8.62%,P<0.05),携带CC基因型者罹患结肠癌风险增加2.193倍(95%CI:1.287-3.373)。rs2853677位点结肠腺瘤组+结肠癌组与对照组相比CC基因型分布差异具有统计学意义(P<0.05),OR=1.682(95%CI:1.053-2.685)。结论 hTERT基因rs2853677位点基因多态性与结肠癌遗传易感性相关。

Objective To explore the correlation between single nucleotide polymorphisms(SNPs) of human telomerase reverse transcriptase(hTERT) rs2853676 and rs2853677 and the susceptibility to colon cancer.Methods From January 2017 to December 2018,polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to analyze the gene polymorphism of 186 patients with colon cancer,194 patients with colonic adenoma and 406 randomly matched healthy subjects who underwent colonoscopy in Yantai Yeda hospital.Results There was no significant difference in the frequency distribution of each genotype at rs2853676 locus between the case group and the control group (P>0.05).The frequency of CC genotype at rs2853677 locus in the colon cancer group was significantly higher than that in the healthy control group (17.74% vs 8.62%,P<0.05).Those with CC genotype had a 2.193 times increased risk of colon cancer (95% CI:1.287-3.373).There was significant difference in CC genotype distribution between rs2853677 colon adenoma group + colon cancer group and control group (P<0.05),OR=1.682(95%CI:1.053-2.685).Conclusion The polymorphisms of rs2853677 on hTERT may play a landmark role in susceptibility to colon cancer.