中国西南地区人群自噬相关基因ATG4A单核苷酸多态性与肺癌的相关性研究

发布时间：2018-03-06 13:25

本文选题：肺癌　切入点：单核苷酸多态性　出处：《重庆医科大学》2015年硕士论文　论文类型：学位论文

【摘要】：目的：自噬与人类多种疾病的发生发展存在着密切联系,而恶性肿瘤是最早被发现与自噬作用有关的疾病之一。自噬相关基因ATG4A基因多态性与溃疡性结肠炎等疾病有关联,但其与肿瘤的发生是否存在相关性尚未见报道。本研究通过收集中国西南地区人群血液样本,研究ATG4A基因内含子单核苷酸多态性(Single nucleotide polymorphisms, SNPs)与肺癌(lung cancer)的相关性。方法：本研究共纳入582例研究对象,包括225例肺癌患者和257例健康对照者,分别收集其病历资料和新鲜全血标本。提取全血DNA后,采用聚合酶链反应-限制性片段长度多态性技术(Single nucleotide polymorphism-restriction fragment length polymorphism, PCR-RFLP)检测ATG4Ars807185位点的基因型,分析该位点单核苷酸多态性与肺癌的相关性。结果：在肺癌和正常对照两组间,通过二元logistic回归分析,校正了年龄、性别、吸烟史、饮酒史等混杂因素后,ATG4A基因rs807185位点等位基因型和等位基因频率分布存在统计学差异(P0.05)。rs807185位点AA基因型发生肺癌的风险较TT/AT基因型低,通过性别、吸烟史进行分层分析,发现这一趋势在男性人群[P0.001,OR(95%CI)=0.357(0.288-0.612)]和吸烟人群[P0.001,OR(95% CI)=0.278(0.152-0.510)]中更加明显。结论：在中国西南地区人族中,ATG4A基因rs807185位点A基因型单核苷酸多态性与肺癌易感性相关,且在男性吸烟群体中差异更显著。
[Abstract]:Objective: autophagy is closely related to the occurrence and development of many human diseases, and malignant tumor is one of the first diseases associated with autophagy. The polymorphisms of autophagy related gene ATG4A gene are associated with ulcerative colitis and other diseases. However, it has not been reported whether it is related to the occurrence of tumor. In this study, blood samples were collected from people in southwestern China. To study the association of single nucleotide polymorphisms (SNPs) in ATG4A gene with lung cancer. Methods: a total of 582 patients with lung cancer were enrolled in this study, including 225 patients with lung cancer and 257 healthy controls. After the whole blood DNA was extracted, the single nucleotide polymorphism-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the genotype of ATG4Ars807185 locus. Results: age, sex, smoking history were corrected by binary logistic regression analysis between lung cancer group and normal control group. There were significant differences in allelic genotype and allele frequency distribution of rs807185 locus of ATG4A gene after drinking history and other confounding factors. The risk of developing lung cancer by AA genotype was lower than that of TT/AT genotype. The risk of lung cancer was analyzed by sex and smoking history. It was found that this trend was more obvious in the male population [P0.001 OR-95CII [0.3570.288-0.612] and the smoking population (P0.001ORG95CII = 0.2780.152-0.510). Conclusion: the single nucleotide polymorphism of rs807185 locus A of the ATG4A gene is associated with the susceptibility to lung cancer in the ethnic groups in southwestern China. The difference was more significant in male smoking group.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R734.2

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