【摘要】：目的探討白細(xì)胞介素17F(IL-17F)基因位點(diǎn)rs763780多態(tài)性與慢性阻塞性肺疾病的相關(guān)性。 方法以2011年11月1日至2012年10月31日在廣西醫(yī)科大學(xué)第一附屬醫(yī)院門(mén)診及體檢中心就診的患者作為研究對(duì)象,其中COPD患者125例,健康志愿者126例。根據(jù)吸煙史及肺通氣功能結(jié)果將研究對(duì)象分為4組：吸煙COPD1～2級(jí)組(A組)42例,吸煙COPD3-4級(jí)組(B組)83例,吸煙健康組(C組)67例,不吸煙健康組(D)組)59例。收集他們的年齡、民族、吸煙史、Body Mass Index(BMI)、FEV1%、FEV1/FVC、FEF25、FEF50、 FEF75、MMEF75/25等指標(biāo),采集4ml外周靜脈血提取基因組DNA。用Taqman探針標(biāo)記熒光定量PCR法檢測(cè)IL-17F第三外顯子上rs763780位點(diǎn)的單核苷酸多態(tài)性(SNP),獲取各組的基因型及等位基因分布情況。數(shù)據(jù)結(jié)果使用SPSS13.0軟件進(jìn)行統(tǒng)計(jì)學(xué)分析,探討IL-17F rs763780基因多態(tài)性與COPD的相關(guān)性。 結(jié)果(1)IL-17F基因rs763780位點(diǎn)上各基因型的分布符合Hardy-Weinberg平衡。(2)A組CC、CT、TT基因型頻率分別為：2.38%、30.95%、66.67%；B組分別為：1.20%、31.33%、67.47%；C組則分別為：0%、34.33%、65.67%；D組分別為：5.08%、28.81%、66.10%。四組基因型頻率比較結(jié)果為x2=4.788,P=0.571。四組的C、T等位基因頻率分別為：A組(17.86%、82.14%),B組(16.87%、83.13%),C組(17.16%、82.84%),D組(19.49%、80.51%),四組資料的C、T等位基因頻率比較結(jié)果為X2=2.167,P=-0.538)。四組基因型及等位基因分布比較均無(wú)差別。(3)將COPD患者按照肺功能分為Ⅰ級(jí)、Ⅱ級(jí)、Ⅲ級(jí)、Ⅳ級(jí)。對(duì)IL-17F rs763780位點(diǎn)的三種基因型在COPD各級(jí)中的分布進(jìn)行卡方檢驗(yàn),X2=14.34,P=0.07。意味著基因型在各級(jí)COPD中的分布無(wú)差別。(4)將吸煙指數(shù)與FEV1%進(jìn)行相關(guān)性分析,發(fā)現(xiàn)兩者呈密切負(fù)相關(guān)(r=-0.460,p=0.000)；年齡與FEV1%呈負(fù)相關(guān)(r=-0.139,P=0.032)。(5)使用Logistic回歸分析排除年齡、BMI、家族史等混雜因素后探討基因型對(duì)COPD發(fā)病的影響,發(fā)現(xiàn)三種基因型CC、CT、TT的回歸系數(shù)檢驗(yàn)(wald檢驗(yàn))P值分別為0.561、0.894、0.575,均大于0.05。說(shuō)明三種基因型均非COPD發(fā)病的危險(xiǎn)因素。(6)將三種基因型做為因變量建立廣義logistic回歸模型進(jìn)行分析,發(fā)現(xiàn)吸煙及年齡影響IL-17F rs763780位點(diǎn)的基因突變。吸煙者更不易發(fā)生CC基因突變。(似然比P值為0.546,β=-0.103,P=0.021,OR=1.901)。年齡越大越不容易發(fā)生CT突變(似然比P值為0.859,p=-0.028、,P=0.029,OR=0.973) 結(jié)論IL-17F rs763780基因多態(tài)性與COPD易感性及疾病的嚴(yán)重程度無(wú)明顯相關(guān)性,但年齡及吸煙影響基因突變。吸煙者不易發(fā)生CC基因突變,年齡越大者不易發(fā)生CT基因突變。
[Abstract]:Objective to investigate the association between interleukin 17F (IL-17F) gene rs763780 polymorphism and chronic obstructive pulmonary disease (COPD). Methods A total of 125 COPD patients and 126 healthy volunteers were selected from the outpatient and physical examination center of the first affiliated Hospital of Guangxi Medical University from November 1, 2011 to October 31, 2012. According to smoking history and pulmonary ventilation function, the subjects were divided into 4 groups: COPD1~2 group (group A, n = 42), COPD3-4 group (group B, n = 83), smoking healthy group (group C, n = 67) and non-smoking healthy group (D), n = 59). The age, nationality and smoking history of, Body Mass Index (BMI), FEV1%,FEV1/FVC,FEF25,FEF50, FEF75,MMEF75/25 were collected, and the genomic DNA. was extracted from the peripheral venous blood of 4ml. The single nucleotide polymorphism (SNP), at rs763780 site in exon 3 of IL-17F was detected by fluorescence quantitative PCR labeled with Taqman probe. The distribution of genotypes and alleles in each group was obtained. The data were analyzed by SPSS13.0 software to explore the correlation between IL-17F rs763780 gene polymorphism and COPD. Results (1) the distribution of genotypes at the rs763780 site of IL-17F gene was in accordance with Hardy-Weinberg equilibrium. (2) the frequencies of CC,CT,TT genotypes in group A were 2.38%, 30.95% and 66.67%, respectively. Group B: 1.20%, 31.33%, 67.47%, group C: 0%, 34.33%, 65.67%, group D: 5.08%, 28.81%, 66.10%, respectively. The results of comparison of genotype frequencies among the four groups were as follows: x2? 4.788, P0. 571. The allele frequencies of C and T in the four groups were as follows: group A (17.86%, 82.14%), B) (16.87%, 83.13%), C) (17.16%, 82.84%), D) (19.49%, 80.51%). The C and T allele frequencies of the four groups were X 2? 2.167, P < 0. 538 (P < 0. 538). There was no difference in genotype and allele distribution among the four groups. (3) patients with COPD were divided into grade 鈪，

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