本文關(guān)鍵詞： PD-1基因 單核苷酸多態(tài)性 基因型頻率 等位基因頻率 單體型頻率 非小細(xì)胞肺癌　出處：《蘇州大學(xué)》2016年碩士論文　論文類型：學(xué)位論文

【摘要】：目的:探討PD-1基因PD-1.1(rs36084323),PD-1.5(rs2227981),PD-1.9(rs2227982)位點(diǎn)多態(tài)性與非小細(xì)胞肺癌(NSCLC)發(fā)生風(fēng)險(xiǎn)的相關(guān)性。方法:收集321名NSCLC患者和205名正常對(duì)照者的外周靜脈全血,采用限制性片段長(zhǎng)度多態(tài)性聚合酶鏈反應(yīng)(PCR-RFLP)和限制性核酸內(nèi)切酶法得出(PD-1.1)rs36084323和(PD-1.5)rs2227981位點(diǎn)上的基因型;采用等位基因特異擴(kuò)增法(PCR-ASA)對(duì)rs2227982(PD-1.9)位點(diǎn)上的基因型進(jìn)行分型;運(yùn)用SPSS軟件分析PD-1基因中三個(gè)位點(diǎn)在病例組和對(duì)照組中的基因型和等位基因頻率分布的差異,以檢驗(yàn)多態(tài)性位點(diǎn)是否與NSCLC發(fā)生相關(guān)。結(jié)果:在病例組和健康對(duì)照組PD-1.1位點(diǎn)的GG,GA及AA基因型頻率分別為19.6%,50.2%,30.2%和27.8%,48.8%,23.4%,病例組和健康對(duì)照組中PD-1.1位點(diǎn)AA與GG基因型相比的OR值為1.255(95%CI 0.819-1.923,P=0.017),GA及GG基因型相比的OR值為1.828(95%CI 1.111-3.008,P=0.296);由此可見,PD-1.1位點(diǎn)的GG基因型在病例組和健康對(duì)照組中相比有顯著統(tǒng)計(jì)學(xué)差異(P0.05)。病例組和健康對(duì)照組PD-1.5位點(diǎn)T等位基因攜帶頻率分別為74.3%和78.3%,(OR=0.802,95%CI0.587-1.076,P=0.140);PD-1.9位點(diǎn)T的等位基因攜帶頻率分別為5.1%和4.9%,(OR=0.909,95%CI 0.710-1.165,P=0.452),兩個(gè)位點(diǎn)等位基因攜帶頻率兩組比較無顯著統(tǒng)計(jì)學(xué)差異。在病例組和健康對(duì)照組PD-1.5位點(diǎn)的CC,CT及TT基因型頻率分別為53.9%,40.8%,5.3%和59.0%,38.5%,2.5%,病例組和健康對(duì)照組中PD-1.5位點(diǎn)CC與TT基因型相比的OR值為0.421(95%CI 0.151-1.171,P=0.114),CC及CT基因型相比的OR值為0.862(95%CI 0.600-1.240,P=0.460);病例組和健康對(duì)照組PD-1.9位點(diǎn)的CC,CT及TT基因型頻率分別為1.6%,94.1%,4.3%和3.9%,94.1%,2.0%,病例組和健康對(duì)照組中PD-1.9位點(diǎn)CC與TT基因型相比的OR值為0.179(95%CI 0.037-0.863,P=0.060),CC及CT基因型相比的OR值為0.399(95%CI0.129-1.239,P=0.101),由此可見,這兩個(gè)位點(diǎn)的三種基因型在病例組和健康對(duì)照組中的分布頻率無差異(P0.05)。PD-1.1/PD-1.5所構(gòu)成的四種單體型中,GC單體型頻率在病例組和對(duì)照組間有統(tǒng)計(jì)學(xué)差異(P0.05);PD-1.1與年齡、性別、遠(yuǎn)處轉(zhuǎn)移及臨床分期無關(guān),GA基因型(P=0.001)和AA基因型(P=0.006)與腫瘤病理類型相關(guān)、GA基因型與淋巴結(jié)是否轉(zhuǎn)移相關(guān)(P=0.029);PD-1.5與患者年齡、性別、腫瘤病理類型及臨床分期無關(guān),TT基因型與原發(fā)腫瘤、淋巴結(jié)是否轉(zhuǎn)移和是否遠(yuǎn)處轉(zhuǎn)移相關(guān)(P=0.021,0.047,0.005);PD-1.9與臨床分期相關(guān)(P=0.015),與性別、年齡、腫瘤組織學(xué)類型、原發(fā)腫瘤、淋巴結(jié)轉(zhuǎn)移及遠(yuǎn)處轉(zhuǎn)移均無關(guān)。結(jié)論:PD-1基因PD-1.5位點(diǎn)和PD-1.9位點(diǎn)的基因型、等位基因型頻率在病例組和對(duì)照組中的分布差異均無統(tǒng)計(jì)學(xué)意義。PD-1基因PD-1.1位點(diǎn)SNP與NSCLC的易感性相關(guān),AA基因型和A等位基因型可以降低NSCLC的發(fā)生風(fēng)險(xiǎn),是保護(hù)性因素。PD-1基因PD-1.1/PD-1.5兩位點(diǎn)呈連鎖不平衡狀態(tài),其GC單體型與NSCLC的易感性相關(guān),是NSCLC發(fā)生的保護(hù)性因素。PD-1單核苷酸酸多態(tài)性與NSCLC患者腫瘤組織學(xué)類型、原發(fā)腫瘤、淋巴結(jié)轉(zhuǎn)移、遠(yuǎn)處轉(zhuǎn)移及臨床分期相關(guān)。
[Abstract]:Objective: To investigate the PD-1 gene PD-1.1 (rs36084323), PD-1.5 (rs2227981), PD-1.9 (rs2227982) polymorphism and non-small cell lung cancer (NSCLC) correlation risk. Methods: peripheral venous blood collected from 321 NSCLC patients and 205 normal controls, using restriction fragment length polymorphism polymerase chain reaction (PCR-RFLP) and restriction endonuclease method (PD-1.1) and rs36084323 (PD-1.5) gene locus rs2227981; using allele specific amplification (PCR-ASA) to rs2227982 (PD-1.9) locus genotype typing; analysis of three loci in the PD-1 gene in the case group and control group the genotype and allele frequency distribution of the difference between the use of SPSS software, to test whether polymorphisms were associated with NSCLC. Results: in the patient group and healthy control group PD-1.1 sites GG, GA and AA genotype frequencies were 19.6%, 50.2%, 30.2%鍜，

本文編號(hào)：1543824