本文選題：CFI + 標簽SNP　； 參考：《華北理工大學》2015年碩士論文

【摘要】：目的本研究旨在探討CFI標簽遺傳變異與非小細胞肺癌發(fā)病風險的關(guān)系,為非小細胞肺癌的早期發(fā)現(xiàn),易感人群篩查提供理論依據(jù)。方法以病例-對照研究的方法,從2008年3月至2012年12月在唐山市工人醫(yī)院連續(xù)收集470例肺癌患者和470例同時期健康查體的人群作為研究對象。利用軟件Haploview 4.2分析并選取了CFI基因上的tag SNPs進行選擇,采用i Plex Gold Genotyping Assay和Sequenom Mass Array基因分型技術(shù)對目標tag SNPs進行進一步的基因分型。以χ2檢驗比較病例組與對照組之間年齡、性別以及吸煙狀況差異。非條件Logistic回歸方法計算調(diào)整性別、年齡、吸煙情況的OR值(95%CI)分析CFI基因多態(tài)與非小細胞肺癌發(fā)病的易感性關(guān)系。結(jié)果我們對CFI基因的13個tag SNPs(rs11726949,rs13104777,rs6822976,rs74817407,rs4698784,rs4541508,rs7356506,rs12512308,rs4626205,rs4288008,rs10029485,rs4698788,rs7671905)進行研究,發(fā)現(xiàn)CFI基因rs7671905和rs6822976多態(tài)與非小細胞肺癌的發(fā)病相關(guān)。與攜帶rs6822976AA基因型的個體相比,攜帶rs6822976GG基因型的個體肺癌發(fā)病的風險顯著降低,其OR值為0.64(95%CI=0.42~0.98)。與攜帶rs7671905CC基因型的個體相比,攜帶TT基因型的個體肺癌發(fā)病的風險明顯降低,OR值為0.55(95%CI=0.33~0.91,P=0.02)。未發(fā)現(xiàn)CFI基因其他標簽SNP各基因型分布在正常對照和肺癌患者中有顯著性差異。進一步吸煙分層分析顯示,在非吸煙人群中,至少攜帶一個rs6822976G等位基因的個體降低肺癌的發(fā)病風險,其OR值為0.66(95%CI=0.47~0.93);而在吸煙人群中rs6822976GG或rs6822976AG基因型攜帶者肺癌發(fā)病風險的OR值為1.01(95%CI=0.67~1.53),差異無統(tǒng)計學意義。對于CFI rs7671905基因多態(tài),在非吸煙組,至少攜帶一個T等位基因的個體比CC基因型攜帶者肺癌發(fā)病風險顯著降低,其OR(95%CI)為0.71(0.51~0.99);在吸煙組,rs7671905CT遺傳變異并不影響肺癌發(fā)病風險(P0.05)。結(jié)論CFIrs6822976和rs7671905遺傳變異可影響非小細胞肺癌的發(fā)病風險。rs6822976GG基因型或rs7671905TT基因型攜帶者肺癌發(fā)病風險顯著降低。
[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.
【學位授予單位】：華北理工大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R734.2

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本文編號：1822052