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端粒酶逆转录酶基因多态性与胃癌遗传易感性的研究

徐保华1,司君利1,亓玉琴1,崔伟丽2,陈丽丽1   

  1. 1 青岛大学医学院附属青岛市市立医院消化内科 2 青岛市传染病医院消化科
  • 收稿日期:2012-08-30 修回日期:2012-10-08 出版日期:2012-12-31 发布日期:2012-12-31
  • 通讯作者: 亓玉琴

Association of genetic polymorphism of TERT with susceptibility to gastric cancer

XU Bao-hua, SI Jun-li, QI Yu-qin, CUI Wei-li, CHEN Li-li.   

  1. Department of Gastroenterology, the Affiliated Qingdao Municipal Hospital, Medical School of Qingdao University
  • Received:2012-08-30 Revised:2012-10-08 Online:2012-12-31 Published:2012-12-31
  • Contact: QI Yu-qin

摘要:

目的探讨端粒酶逆转录酶(TERT)基因rs2736098 和 rs2736100位点单核苷酸多态性与胃癌遗传易感性和幽门螺杆菌(Hp)感染的关系。方法 采用限制性片段长度多态性聚合酶链反应(PCRRFLP)检测297例胃癌患者(病例组)和306例非萎缩性胃炎患者(对照组)中TERT基因rs2736098和rs2736100位点的多态性;采用病理学诊断和13C尿素酶呼气试验检测Hp感染。结果 rs2736098位点各基因型频率在病例组和对照组中的分布差异无统计学意义(P>0.05),病例组rs2736100位点仅GG基因型频率显著高于对照组(27.0% vs. 16.4%,P<0.05)。Logistic回归分析显示,携带GG基因型个体罹患胃癌的风险是携带TT基因型个体的1.371倍(OR=1.371,95%CI:1.063~1.775,P=0.005);在Hp阴性者中,GG型罹患胃癌的风险较TT型增加(OR=1.421,95%CI:0.988~2.042,P=0.046);而在Hp阳性者中,未发现rs2736100位点的基因型与罹患胃癌的风险有关。结论 TERT基因rs2736100位点基因多态性可能与胃癌遗传易感性相关,而与Hp感染无关。

Abstract:

ObjectiveTo explore the correlation between singlenucleotide polymorphisms(SNPs) of telomerase reverse transcriptase(TERT) rs2736098 and rs2736100 and the susceptibility to gastric cancer as well as the infection of Helicobacter pylori(Hp). Methods This casecontrol study included 297 diagnosed gastric cancer patients and 306 nonchronic atrophic gastritis patients. Polymerase chain restriction fragment length polymorphism and direct sequencing were performed to analyze the genotype of rs2736098 and rs2736100 on TERT. Hp infection was detected by pathological diagnosis and 13Curea breath test. ResultsThe frequencies distribution of three genotypes of rs2736098 had no significant difference between gastric cancer and control group(P>0.05). The frequency of GG genotype of rs2736100 was higher in the gastric cancer group compared to the control group(27.0% vs. 16.4%, P<0.05). The multivariates Logistic regression analysis showed that GG genotype carriers had an increased risk of gastric cancer compared with the TT carriers(OR=1.371, 95%CI:1.063-1.775, P=0.005). In negativeHp infection patients, GG genotype carriers had higher risk of gastric cancer than TT genotype carriers(OR=1.421, 95%CI:0.988~2.042,P=0.046). There was no assoliation between Hp infection and genetic variation. Conclusion The polymorphism of rs2736100 on TERT may play an important role in susceptibility to gastric cancer, but not relate to Hp.

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