mTOR基因多态性与肝细胞癌发病关联性

目的 探讨广西地区人群mTOR基因的潜在生物学功能单核苷酸多态性（SNP）位点rs2536和rs1883965与肝细胞癌（HCC）发病的关系，为HCC的预防控制提供科学依据。方法 采用以医院为基础的病例对照研究方法，抽取2007年1月—2011年4月在广西医科大学第一附属医院和广西医科大学附属肿瘤医院就诊的1 048例HCC患者和1 052例非肿瘤患者分别作为病例组和对照组人群进行问卷调查和基因分型，应用logistic回归模型分析各SNP位点及其与环境因素交互作用与HCC发病的关系。结果 病例组人群mTOR基因rs2 536位点TT、TC、CC和TC+CC基因型者分别占81.01%、17.75%、1.24%和18.99%，与对照组人群的80.80%、17.87%、1.33%和19.20%比较，差异均无统计学意义（P>0.05）；病例组人群mTOR基因rs1883965位点GG、GA、AA和GA+AA基因型者分别占84.06%、15.74%、0.19%和15.94%，与对照组人群的83.84%、15.21%、0.95%和16.16%比较，差异均无统计学意义（P>0.05）；分别按年龄、性别、民族、吸烟史、饮酒史和乙型肝炎病毒感染进行分层分析，结果表明，mTOR基因rs2536和rs1883965位点多态性与HCC发病风险均无统计学关联（P>0.05）。结论 mTOR基因rs2536和rs1883965位点基因多态性与HCC发病无关。

Association of mTOR polymorphisms with risk of hepatocellular carcinoma

Objective To explore the association between potentially functional polymorphisms of rs2536(T>C)and rs1883965(G>A)in mammalian target of rapamycin(mTOR)and the risk of hepatocellular carcinoma(HCC), and to provide a reference for prevention of HCC.Methods A hospital-based case-control study was carried out.Totally 1 048 HCC patients and 1 052 cancer-free patients from the First Affiliated Hospital of Guangxi Medical University and Guangxi Cancer Hospital during January 2007- April 2011 were investigated with a questionnaire survey.Polymorphisms were genotyped for rs2536 and rs1883965 in the cases and controls.The associations between polymorphisms of rs2536 and rs1883965 in mTOR and its interaction with environmental factors and the risk of HCC were analyzed with logistic regression model.Results No significant differences were found in the genotype distributions of rs2536 and rs1883965(P>0.05)between the cases and controls.The frequency of the TT, TC, CC, and TC+CC genotypes of rs2536 were 81.01%, 17.75%, 1.24%, and 18.99%in the cases and 80.80%, 17.87%, 1.33, and 19.20% in the controls, respectively.The frequency of the GG, GA, AA, and GA+AA genotypes of rs1883965 were 84.06%, 15.74%, 0.19%, and 15.94%in cases and 83.84%, 15.21%, 0.95%, and 16.16%in the controls, respectively.After stratified by age, sex, race, smoking status, alcohol drinking, and hepatitis B virus infection, no statistically significant associations were found.Conclusion No association between polymorphisms of rs2536(T>C)and rs1883965(G>A)in mTOR and the risk of HCC was found in Guangxi population in the study.