CASP9、CASP10基因多态、环境因素与结直肠癌发病年龄关系的单纯病例研究.doc

  CASP9、CASP10 基因多态、环境因素与结 直肠癌发病年龄关系的单纯病例研究# ** 5 10 15 20 25 30 35 40 45  ） 摘要：目的：探讨 CASP9、CASP10 基因多态、环境因素与结直肠癌发病年龄之间的关系。 方法：采用单纯病例研究设计，以浙江省嘉善县肿瘤防治所监测上报的直肠癌病例为研究对 象，通过问卷调查收集研究对象的人口学资料、生活方式特征等信息。应用 Tag SNP 筛选 策略和 PCR-RFLP 分型检测方法，对 CASP9 和 CASP10 的 8 个 SNP 进行分型鉴定。应用秩 和检验和广义线性回归模型各分析多态基因型、环境因素与结直肠癌发病年龄之间的关系。 结果：研究共纳入结直肠癌病例 298 例，秩和检验发现 BMI、文化程度、婚姻状况、肿瘤 家族史与结直肠癌发病年龄有关，而性别、肿瘤部位、职业、体育锻炼、吸烟、饮酒、饮茶 与发病年龄无关。结合基因分型结果发现，结直肠癌发病年龄在 CASP9 的 rs4646018 多态 基因型组中的分布存在差异，P=0.042。在校正了性别、文化程度、BMI、肿瘤家族史等因 素后，CASP9 的 rs4233532 与结直肠癌发病年龄相关。结论：本研究结果提示 BMI、文化 程度、婚姻状况、肿瘤家族史以及 CASP9 的 rs4646018 多态位点与结直肠癌发病年龄有关， 在校正了性别、文化程度、BMI、婚姻状况、肿瘤家族史等因素后，CASP9 的 rs4233532 位 点与结直肠发病年龄相关。 关键词：结直肠肿瘤；凋亡；单核苷酸多态性；发病年龄 中图分类号：R735.3 The associations between genetic polymorphisms in CASP9/CASP10, environment exposures and early onset of colorectal cancer: a case-only study MAO Yingying1, JING Fangyuan1, JIANG Xia1,3, LIU He1, MA Xinyuan2, LI Qilong2, JIN Mingjuan1, CHEN Kun1 (1. Department of Epidemiology and Health Statistics, Zhejiang University, HangZhou 310058; 2. Institute of Cancer Research and Prevention of Jiashan County, ZheJiang JiaShan 314100; 3. Department of Environmental Medicine, Karolinska Institute, Stockholm 17176) Abstract: Objective The aim of this study was to evaluate the associations between genetic polymorphisms in CASP9 and CASP10, environment exposures and early onset of colorectal cancer (CRC). Methods All participants were identified through the Cancer Registry and Surveillance System in Jiashan County, Zhejiang Province. Face-to-face interviews were conducted to collect demographic characteristics and environment exposures using structured questionnaire. A total of eight single nucleotide polymorphisms (SNPs) in CASP9 and CASP10 were genotyped using restriction fragment length polymorphism (PCR-RFLP) assay. Wilcoxon non-parametric analysis and generalized linear regression were applied to assess the associations between SNPs in CASP9 and CASP10, environment exposures and early ons