本文選題：基因　切入點(diǎn)：系統(tǒng)性紅斑狼瘡　出處：《安徽醫(yī)科大學(xué)》2017年碩士論文

【摘要】：研究一STAT4基因多態(tài)性與系統(tǒng)性紅斑狼瘡臨床表型的相關(guān)性研究目的本研究主要是研究STAT4基因位點(diǎn)rs7574865與系統(tǒng)性紅斑狼瘡的遺傳易感性之間的關(guān)系。同時(shí),根據(jù)從醫(yī)院收集的資料分析該位點(diǎn)基因多態(tài)性與SLE臨床表型和實(shí)驗(yàn)室指征的關(guān)聯(lián)。方法采用研究方法是病例對照研究,收集1387例SLE患者,患者來自于安徽省的2所三級甲等醫(yī)院(安徽醫(yī)科大學(xué)附屬省立醫(yī)院和安徽醫(yī)科大學(xué)第一附屬醫(yī)院);收集健康對照2259例,用統(tǒng)一的調(diào)查問卷收集病例和對照的一般人口學(xué)資料和臨床資料。利用Sequenom Mass ARRAY技術(shù)進(jìn)行基因分型。應(yīng)用SPSS 16.0進(jìn)行統(tǒng)計(jì)分析。結(jié)果位點(diǎn)rs7574865在病例組GG、GT和TT的基因頻率分別為35.11%、49.17%和15.72%;對照組基因型頻率中分別為44.58%、44.35%和11.07%。在顯性和隱性模型中均顯示出差異有統(tǒng)計(jì)學(xué)意義(TT+GT vs GG:OR=1.487,95%CI:1.295-1.709);TT vs GG+GT:OR=1.510,95%CI:1.240-1.839);病例組和對照組中T和G的等位基因頻率差異有統(tǒng)計(jì)學(xué)意義(P0.001)。顯性模型下,位點(diǎn)rs7574865與盤狀紅斑的發(fā)生有關(guān)聯(lián),OR(95%CI)值為1.460(1.063-2.004)。但是,并未發(fā)現(xiàn)位點(diǎn)rs7574865與其余臨床表型和實(shí)驗(yàn)室指標(biāo)之間有關(guān)聯(lián)(均有P0.05)。結(jié)論該人群STAT4位點(diǎn)rs7574865基因多態(tài)性與SLE遺傳易感性有關(guān),同時(shí)發(fā)現(xiàn)rs7574865基因多態(tài)性與盤狀紅斑有一定的關(guān)聯(lián),未發(fā)現(xiàn)與其他的臨床表型和實(shí)驗(yàn)室指標(biāo)有關(guān)聯(lián)。研究二SLE患者PBMC中STAT4基因m RNA水平及其與IL23 m RNA和IL17 m RNA水平的相關(guān)性研究目的檢測SLE患者和健康對照組PBMC中的STAT4,此外檢測病例組IL17和IL23m RNA的水平,在基因表達(dá)的水平上探索STAT4基因與SLE的關(guān)聯(lián)。分析STAT4基因表達(dá)分別與IL17、IL23基因表達(dá)的相關(guān)性。方法采集42例患者和33例對照的外周血,提取PBMC中的RNA,分別檢測STAT4m RNA、IL17和IL23 m RNA的表達(dá)水平。采用Mann-Whitney U秩和檢驗(yàn)比較各組間的STAT4表達(dá)是否存在差異。采用Spearman等級相關(guān)分析STAT4 m RNA表達(dá)與IL17 m RNA、IL23 m RNA表達(dá)之間的關(guān)聯(lián)。統(tǒng)計(jì)軟件是SPSS 16.0。結(jié)果42例病例組和33例對照組間PBMC中STAT4基因表達(dá)水平差異無統(tǒng)計(jì)學(xué)意義(Z=-1.516,P=0.130)。17例LN組和25例非LN組之間STAT4基因表達(dá)差異無統(tǒng)計(jì)學(xué)意義(Z=-0.243,P=0.808),活動組和非活動組STAT4基因表達(dá)差異無統(tǒng)計(jì)學(xué)意義(Z=-0.947,P=0.344)。臨床表型中,發(fā)現(xiàn)皮疹和血管炎與STAT4基因表達(dá)相關(guān)(P0.05)。此外,研究發(fā)現(xiàn),STAT4基因表達(dá)分別與IL17、IL23表達(dá)呈正相關(guān)(IL23:rs=0.741,P0.001;IL17:rs=0.486,P0.001)。結(jié)論未發(fā)現(xiàn)SLE病例組和對照組、活動組和非活動組、狼瘡腎炎組和狼瘡非腎炎組STAT4基因表達(dá)之間的差異。SLE患者中血管炎、皮疹與STAT4表達(dá)有關(guān)。SLE患者中STAT4基因表達(dá)與IL17、IL23基因表達(dá)呈正相關(guān)。
[Abstract]:To study the relationship between STAT4 gene polymorphism and clinical phenotype of systemic lupus erythematosus objective to study the relationship between STAT4 locus rs7574865 and genetic susceptibility of systemic lupus erythematosus. According to the data collected from the hospital, the association between the polymorphism of the locus gene and the clinical phenotype and laboratory indications of SLE was analyzed. Methods A case-control study was conducted in 1387 patients with SLE. The patients were from 2 Grade 3A hospitals in Anhui Province (provincial hospital affiliated to Anhui Medical University and the first affiliated Hospital of Anhui Medical University). 2259 healthy controls were collected. General demographics and clinical data of case and control were collected by uniform questionnaire. Genotyping was carried out by Sequenom Mass ARRAY technique. SPSS 16.0 was used for statistical analysis. Results the gene frequency of rs7574865 locus in GGG GT and TT was obtained in the case group. The frequency of genotypes in the control group was 44.58% and 11.07%, respectively. There were statistically significant differences in TT GT vs GG: 1.487-95CIW 1.295-1.709TT vs GG GTOR1. 51095 CIW 1.240-1.839; the allele frequencies of T and G were different in the case group and the control group. There is statistical significance in P0.001. under dominant model, There was a correlation between locus rs7574865 and the occurrence of discoid erythema. The value of ORY95CI was 1.460,1.063-2.004. However, there was no association between locus rs7574865 and other clinical phenotypic and laboratory indexes (all P 0.05). Conclusion the polymorphism of rs7574865 gene at STAT4 locus is associated with the genetic susceptibility of SLE in this population, but there is no correlation between the locus rs7574865 and other clinical phenotypic and laboratory indexes. It was also found that rs7574865 gene polymorphism was associated with discoid erythema. No association was found with other clinical phenotypes and laboratory markers. To study the relationship between m RNA level of STAT4 gene and IL23 m RNA and IL17 m RNA in PBMC of patients with second SLE objective to detect PBMC in SLE patients and healthy controls. STAT4, and the levels of IL17 and IL23m RNA in the case group, To explore the association between STAT4 gene and SLE at the level of gene expression, and to analyze the correlation between STAT4 gene expression and IL17 gene expression. Methods Peripheral blood samples were collected from 42 patients and 33 controls. The expression levels of STAT4m RNAs IL-17 and IL23 m RNA were detected. Mann-Whitney U rank sum test was used to compare the difference of STAT4 expression among the groups. Spearman rank correlation analysis was used to analyze the expression of STAT4 m RNA and IL17 m RNAl23 m RNA. Results there was no significant difference in the expression of STAT4 gene between 42 cases of PBMC and 33 cases of control group. There was no significant difference in the expression of STAT4 gene between 17 cases of LN group and 25 cases of non-LN group. There was no significant difference in STAT4 gene expression between the two groups. It was found that rashes and vasculitis were correlated with the expression of STAT4 gene (P 0.05). In addition, the expression of STAT4 gene was positively correlated with the expression of IL17: rsl 23, respectively. Conclusion there is no positive correlation between the expression of STAT4 gene and the expression of IL23: rssil 0.741P0.001IL17: rssil 0.486p0.001.Conclusion there are no cases of SLE, control group, active group and inactive group. The difference of STAT4 gene expression between lupus nephritis group and lupus non-glomerulonephritis group. There was a positive correlation between STAT4 gene expression and IL17 sil 23 gene expression in patients with STAT4.
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R593.241

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