hTERT基因多态性与结肠癌易感性关系的研究

Association of single nucleotide polymorphisms on hTERT with colon cancer in a Chinese population

目的:探讨人端粒酶逆转录酶(hTERT)基因rs2736098、rs2075786和rs2736100位点单核苷酸多态性(SNP)与结肠癌遗传易感性的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCRRFLP)方法对186例结肠癌患者和194例结肠腺瘤患者(病例组)以及随机匹配的406例健康体检行结肠镜检查未见明显异常者(对照组)进行基因多态性分析。结果:rs2736098、rs2075786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rs2736100位点GG基因型频率显著高于健康对照组及结肠腺瘤组(29.03%vs 16.50%、18.04%,P<0.05),携带GG基因型者罹患结肠癌风险增加2.216倍(95%CI:1.393-3.527)。结论:h TERT基因rs2736100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)rs2736098 rs2075786 and rs2736100 and the susceptibility to colon cancer.Methods:This case-control study included 186 diagnosed colon cancer patients,194 Colonic adenoma patients and 406 healthy people.Polymerase chain restriction fragment length polymorphism and direct sequencing were performed to analyze the genotype of rs2736098 rs2075786 and rs2736100 on hTERT.Results:The frequencies distribution of three genotypes as GG GA and AA on rs2736098 and CC CT TT on rs2075786 had no significant difference between cases and controls.The frequency of GG genotype on rs2736100 was higher in the colon cancer group compared to the control group and Colonic adenoma group(29.03%vs 16.50%,29.03%vs 18.04%).The multi-variates Logistic regression analysis showed that there was no significant difference among rs2736098 and rs2075786 mutations in the susceptibility to colon cancer after adjusting by age,sex,smoking and drinking factors.On rs2736100,GG genotype carriers were at a significantly increased risk of colon cancer compared with the TT carriers(P=0.01,adjusted OR=2.216,95%CI:1.393-3.527).Conclusion:The polymorphisms of rs2736100 on hTERT may play a landmark role in susceptibility to colon cancer.