低氧诱导因子-1α基因多态性与口腔鳞癌的相关性研究  

Correlation between gene polymorphism of HIF-1α and oral squamous cell carcinoma

作　　者：李丽华[1] 李思玉 李俊雄 王玉娇 邱亚[2] LI Lihua;LI Siyu;LI Junxiong;WANG Yujiao;QIU Ya(Department of Stomatology,Affiliated Hospital of North Sichuan Medical College,Nanchong,Sichuan Province,637000,China;Medical Research Center,Affiliated Hospital of North Sichuan Medical College,Nanchong,Sichuan Province,637000,China)

机构地区：[1]川北医学院附属医院口腔科,南充637000 [2]川北医学院附属医院医学研究中心,南充637000

出　　处：《第三军医大学学报》2021年第19期1944-1950,共7页Journal of Third Military Medical University

基　　金：四川省教育厅项目(15zb0199);南充市市校科技合作战略项目(19SXHZ0078)。

摘　　要：目的探讨低氧诱导因子-1α(hypoxia inducible factor-1α,HIF-1α)基因多态性与口腔鳞癌患者发病的相关性及临床意义。方法采用病例对照研究,选择HIF-1αrs11549467、rs1951795、rs2301113、rs966824、rs20574825个位点作为tagSNP,采用iMLDR多重PCR技术,对川北医学院附属医院84例口腔鳞状细胞癌患者和137例健康对照的外周血进行基因分型,收集纳入对象的临床资料和生活习惯资料,比较两组基因型分布、等位基因频率,Logistic回归分析评估发病风险。结果基因位点基因频率分布符合Hardy-Weinberg平衡定律(P>0.05),选择的样本具有群体代表性;多因素Logistic回归校正后,rs966824与口腔鳞癌发病相关(隐性模型,OR=10.464,95%CI:1.117~98.058,P=0.04;加性模型,OR=1.873,95%CI:1.077~3.256,P=0.026);多个基因型位点共同作用下,rs1951795可能是口腔鳞癌发病的保护因素(加性模型,OR=0.219,95%CI:0.057~0.841,P=0.027;显性模型,OR=0.192,95%CI:0.040~0.924,P=0.039);Logistic回归分析表明年龄(P<0.05)和饮酒(P<0.05)是口腔鳞癌发病的危险因素。结论HIF-1α rs966824、rs1951795基因多态性可能与口腔鳞状细胞癌发病有关联。Objective To investigate the correlation and clinical significance of hypoxia inducible factor-1α(HIF-1α) gene polymorphism with occurrence of oral squamous cell carcinoma. Methods A case-control study was performed on 84 patients of oral squamous cell carcinoma and 137 healthy individuals from our hospital. Their clinical data, living habits and other information were collected. The peripheral blood samples were harvested for genotyping with 5 sites of HIF-1α(rs11549467, rs1951795, rs2301113, rs966824, and rs2057482 site) as tagSNP. iMLDR multiple PCR technology was employed for genotype distribution and allele frequency. Logistic regression analysis was adopted to assess the risk of oral squamous cell carcinoma. Results The frequency distribution of gene loci was consistent with Hardy-Weinberg equilibrium law(P>0.05), and the selected samples were representative of the population. After the multivariate logistic regression correction, rs966824 was associated with the incidence of oral squamous cell carcinoma(recessive model, OR=10.464, 95%CI: 1.117~98.058, P=0.04;additive model: OR=1.873, 95%CI: 1.077~3.256, P=0.026). Under the interaction of multiple genotypes, rs1951795 gene may be a protective factor for the incidence of the tumor(additive model: OR=0.219, 95%CI: 0.057~0.841, P=0.027;dominant model: OR=0.192, 95%CI: 0.040~0.924, P=0.039). Logistic regression analysis showed that age(P<0.05) and alcohol consumption(P<0.05) were risk factors for the disease. Conclusion Gene polymorphism of HIF-1α rs966824 and rs1951795 may be associated with the incidence of oral squamous cell carcinoma.

关 键 词：口腔鳞状细胞癌 低氧诱导因子-1Α 基因多态性 

分 类 号：R394.3[医药卫生—医学遗传学] R730.23[医药卫生—基础医学]