文章摘要
袁雯雯,杭栋,王礼华,陈苏虹,丁中兴,胡志斌,马红霞.microRNA合成通路基因SNP与头颈鳞癌发病风险的关联研究[J].中华流行病学杂志,2016,37(8):1069-1073
microRNA合成通路基因SNP与头颈鳞癌发病风险的关联研究
Association between genetic variants in microRNA biosynthesis genes and the risk of head and neck squamous cell carcinoma
收稿日期:2016-03-23  出版日期:2016-08-10
DOI:10.3760/cma.j.issn.0254-6450.2016.08.003
中文关键词: 头颈鳞癌  微小RNA  单核苷酸多态性  PIWIL1  病例对照研究
英文关键词: Head and neck squamous cell carcinoma  microRNA  Single nucleotide polymorphism  PIWIL1  Case-control study
基金项目:大学生创新创业训练计划项目(201510312055X);江苏省高校自然科学研究面上项目(15KJB33000)
作者单位E-mail
袁雯雯 211166 南京医科大学公共卫生学院流行病学系  
杭栋 211166 南京医科大学公共卫生学院流行病学系  
王礼华 211166 南京医科大学公共卫生学院流行病学系  
陈苏虹 211166 南京医科大学公共卫生学院流行病学系  
丁中兴 211166 南京医科大学公共卫生学院流行病学系  
胡志斌 211166 南京医科大学公共卫生学院流行病学系  
马红霞 211166 南京医科大学公共卫生学院流行病学系 hongxiama@njmu.edu.cn 
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中文摘要:
      目的 探讨microRNA合成通路基因单核苷酸多态性(SNP)与头颈鳞癌发病风险的关联。方法 采用病例对照研究设计,纳入年龄(±5岁)、性别频数匹配的576例头颈鳞癌患者和1 552名健康对照。应用Illumina Infinium BeadChip平台检测microRNA合成通路上DICER1GEMIN3PIWIL1的8个潜在功能性SNP位点。通过单因素和多因素logistic回归模型分析不同基因型与头颈鳞癌间的关联。结果 PIWIL1 rs1106042(G>A)的等位基因频率在病例组和对照组中的差异有统计学意义(P=0.011);在调整年龄、性别、吸烟和饮酒等因素后,携带rs1106042 A等位基因的基因型个体发生头颈鳞癌的风险降低(相加模型:aOR=0.73,95% CI:0.57~0.93, P=0.011);分层分析显示,rs1106042 A等位基因在年龄≥60岁、女性、非吸烟、非饮酒、口腔癌亚组中具有降低肿瘤发病风险的效应(P<0.05)。结论 PIWIL1基因的潜在功能SNP位点可能与中国人群头颈鳞癌的发病风险相关。
英文摘要:
      Objective To investigate the association between genetic variants in microRNA biosynthesis genes and the risk of head and neck squamous cell carcinoma (HNSCC). Methods A case-control study was conducted with 576 HNSCC patients and 1 552 healthy controls matched by factors as age-(±5 years) and sex. Eight potentially functional single nucleotide polymorphism loci in microRNA biosynthesis genes (DICER1, GEMIN3, and PIWIL1) were genotyped using the Illumina Infinium BeadChip platform. Univariate and multivariate logistic regression models were performed to assess the association between genotypes and HNSCC risk. Results The allele frequencies of rs1106042 (G>A) in PIWIL1 were significantly different between the cases and controls (P=0.011). After controlling for factors as age, sex, smoking and alcohol intake, the A allele of rs1106042 showed a decreased risk of HNSCC (additive model:adjusted OR=0.73, 95%CI:0.57-0.93, P=0.011). Results from the stratification analysis by age, sex, smoking, alcohol intake and tumor sites showed that the effect of rs1106042 A allele on HNSCC risk was significant in older age groups (≥60), females, nonsmokers, non-alcohol drinkers, and subjects with oral cavity cancer (P<0.05). Conclusion Potentially, functional single nucleotide polymorphism in PIWIL1 might modify the risk of HNSCC in China.
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