CFI基因多态与肺癌遗传易感性关系研究

发布时间：2018-04-29 23:26

本文选题：CFI + 标签SNP　；参考：《华北理工大学》2015年硕士论文

【摘要】：目的本研究旨在探讨CFI标签遗传变异与非小细胞肺癌发病风险的关系,为非小细胞肺癌的早期发现,易感人群筛查提供理论依据。方法以病例-对照研究的方法,从2008年3月至2012年12月在唐山市工人医院连续收集470例肺癌患者和470例同时期健康查体的人群作为研究对象。利用软件Haploview 4.2分析并选取了CFI基因上的tag SNPs进行选择,采用i Plex Gold Genotyping Assay和Sequenom Mass Array基因分型技术对目标tag SNPs进行进一步的基因分型。以χ2检验比较病例组与对照组之间年龄、性别以及吸烟状况差异。非条件Logistic回归方法计算调整性别、年龄、吸烟情况的OR值(95%CI)分析CFI基因多态与非小细胞肺癌发病的易感性关系。结果我们对CFI基因的13个tag SNPs(rs11726949,rs13104777,rs6822976,rs74817407,rs4698784,rs4541508,rs7356506,rs12512308,rs4626205,rs4288008,rs10029485,rs4698788,rs7671905)进行研究,发现CFI基因rs7671905和rs6822976多态与非小细胞肺癌的发病相关。与携带rs6822976AA基因型的个体相比,携带rs6822976GG基因型的个体肺癌发病的风险显著降低,其OR值为0.64(95%CI=0.42~0.98)。与携带rs7671905CC基因型的个体相比,携带TT基因型的个体肺癌发病的风险明显降低,OR值为0.55(95%CI=0.33~0.91,P=0.02)。未发现CFI基因其他标签SNP各基因型分布在正常对照和肺癌患者中有显著性差异。进一步吸烟分层分析显示,在非吸烟人群中,至少携带一个rs6822976G等位基因的个体降低肺癌的发病风险,其OR值为0.66(95%CI=0.47~0.93);而在吸烟人群中rs6822976GG或rs6822976AG基因型携带者肺癌发病风险的OR值为1.01(95%CI=0.67~1.53),差异无统计学意义。对于CFI rs7671905基因多态,在非吸烟组,至少携带一个T等位基因的个体比CC基因型携带者肺癌发病风险显著降低,其OR(95%CI)为0.71(0.51~0.99);在吸烟组,rs7671905CT遗传变异并不影响肺癌发病风险(P0.05)。结论CFIrs6822976和rs7671905遗传变异可影响非小细胞肺癌的发病风险。rs6822976GG基因型或rs7671905TT基因型携带者肺癌发病风险显著降低。
[Abstract]:Objective to explore the relationship between genetic variation of CFI tag and the risk of NSCLC, and to provide theoretical basis for early detection and screening of susceptible population of NSCLC. Methods from March 2008 to December 2012, 470 patients with lung cancer and 470 people with health check-up in the same period were collected from workers' hospital of Tangshan City from March 2008 to December 2012. The tag SNPs on CFI gene was analyzed and selected by software Haploview 4.2, and further genotyping of target tag SNPs was carried out by i Plex Gold Genotyping Assay and Sequenom Mass Array genotyping techniques. Age, sex and smoking status were compared between the case group and the control group by 蠂 2 test. The OR value of adjusted sex, age and smoking was calculated by non-conditional Logistic regression method to analyze the relationship between CFI gene polymorphism and the susceptibility of non-small cell lung cancer (NSCLC). Results We studied 13 tag SNPs (rs11726949), rs13104777, rs68229776, rs464878784rs4541508, rs7356506, rs12512308rs4626205rs4288008rs1029485rs4698788rs76705) of CFI gene. We found that the polymorphisms of CFI gene rs7671905 and rs6822976 were related to the pathogenesis of non-small cell lung cancer. Compared with individuals with rs6822976AA genotype, the risk of lung cancer in individuals with rs6822976GG genotype was significantly lower than that in individuals with rs6822976GG genotype. Compared with individuals with rs7671905CC genotype, the risk of lung cancer in individuals with TT genotype was significantly lower than that in individuals with TT genotype. There was no significant difference in the distribution of SNP genotypes between normal controls and lung cancer patients with other CFI gene labels. Further smoking stratification analysis showed that individuals with at least one rs6822976G allele reduced the risk of lung cancer in non-smokers. The OR value of rs6822976GG or rs6822976AG genotype carriers in smoking population was 0.61 ~ 95 and 0.671.53 respectively, and there was no significant difference between them. For the polymorphism of CFI rs7671905 gene, the risk of lung cancer in individuals with at least one T allele was significantly lower than that in CC genotype carriers, and the ORG95 CI was 0.71 ~ 0.51 / 0.990.CT genetic variation of rs7671905 did not affect the risk of lung cancer in the smoking group. Conclusion the genetic variation of CFIrs6822976 and rs7671905 may affect the risk of NSCLC. Rs6822976GG genotype or rs7671905TT genotype carrier can significantly reduce the risk of lung cancer.
【学位授予单位】：华北理工大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R734.2

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