本文選題：系統(tǒng)性紅斑狼瘡 + 趨化因子受體6　； 參考：《安徽醫(yī)科大學(xué)》2015年碩士論文

【摘要】：研究背景趨化因子受體6(chemokine receptor 6,CCR6)是一種多功能細胞因子受體。近年來年,國內(nèi)外已有許多關(guān)于CCR6作用及其功能的研究,并已經(jīng)證實CCR6與多種自身免疫性疾病的發(fā)病有關(guān),如類風(fēng)濕關(guān)節(jié)炎、銀屑病、Graves’病、克羅恩病等。然而,CCR6與系統(tǒng)性紅斑狼瘡(systemic lupus erythematosus,SLE)的研究卻很少,更未見其基因多態(tài)性與SLE易感性的研究。本研究從CCR6基因多態(tài)性的角度來探討CCR6與SLE發(fā)病之間的關(guān)系,為進一步揭示SLE的發(fā)病機制提供理論依據(jù)。目的探討CCR6基因單核苷酸多態(tài)性(single nucleotide polymorphism,SNP)與中國漢族人群SLE遺傳易感性的關(guān)系,并分析其與SLE患者臨床特征之間的關(guān)系。方法收集來自安徽醫(yī)科大學(xué)第一附屬醫(yī)院和安徽省立醫(yī)院兩家醫(yī)院風(fēng)濕科門診或住院部的SLE患者760例,對照來自于安徽醫(yī)科大學(xué)健康志愿者和安徽醫(yī)科大學(xué)第一附屬醫(yī)院健康體檢中心體檢人員,共761例。采用自行設(shè)計的調(diào)查問卷收集研究對象的一般人口學(xué)資料及有關(guān)臨床資料,并采集靜脈血3~5 ml。使用Taq Man基因分型技術(shù),對SLE患者和正常對照進行CCR6基因rs3093024和rs1854853兩個SNP位點基因分型,分析SLE患者和正常對照等位基因和基因型頻率分布情況,并探討CCR6基因多態(tài)性與SLE常見臨床特征之間的關(guān)系。結(jié)果(1)CCR6基因rs3093024位點A和G等位基因頻率在SLE組中分別為40.79%和59.21%,在對照組中分別為42.38%和57.62%,差異無統(tǒng)計學(xué)意義(?2=0.79,P=0.374)�；蛐虯A、AG和GG在SLE組中的頻率分別為17.89%、45.79%和36.32%,在對照組中分別為18.13%、48.49%和33.38%,基因型與SLE發(fā)病之間未顯示有統(tǒng)計學(xué)意義(?2=1.54,P=0.463)。遺傳模型分析結(jié)果顯示,顯性模型(AA+AG vs.GG)、隱性模型(AA vs.GG+AG)與SLE易感性間均未見有統(tǒng)計學(xué)關(guān)聯(lián)(均有P0.05)。CCR6基因rs1854853位點G和A等位基因頻率在SLE組和對照組中相似,SLE組中G和A等位基因頻率分別為49.34%和50.66%,對照組中分別為49.47%和50.53%,差異無統(tǒng)計學(xué)意義(?2=0.01,P=0.942)。GG、AG和AA 3種基因型的頻率在病例組中分別為23.95%、50.79%和25.26%,對照組中這3種基因型的頻率依次為24.70%、49.54%和25.76%,差異無統(tǒng)計學(xué)意義(χ2=0.24,P=0.885)。遺傳模型分析結(jié)果顯示,顯性模型(GG+AG vs.AA)和隱性模型(GG vs.AA+AG)和SLE發(fā)病之間均未見有統(tǒng)計學(xué)關(guān)聯(lián)(均有P0.05)。(2)CCR6基因rs3093024位點A等位基因可能為盤狀紅斑的保護因素。A等位基因相比于G等位基因,OR值為0.654(95%CI:0.447~0.958,P=0.028),同時,顯性模型AA+AG相比于GG的OR值為0.539(95%CI:0.324~0.895,P=0.016)。結(jié)論CCR6基因rs3093024位點與SLE易感性無關(guān),但與其并發(fā)臨床癥狀盤狀紅斑有關(guān);CCR6基因rs1854853位點與SLE發(fā)病及其臨床特征均無關(guān)。
[Abstract]:Background chemokine receptor 6(chemokine receptor 6 (CCR 6) is a multifunctional cytokine receptor. In recent years, there have been many studies on the role and function of CCR6 at home and abroad, and it has been proved that CCR6 is associated with many autoimmune diseases, such as rheumatoid arthritis, psoriasis, Graves' disease, Crohn's disease and so on. However, there are few studies on CCR6 and systemic lupus erythematosus SLEs, and there are no studies on their gene polymorphisms and susceptibility to systemic lupus erythematosus. This study explored the relationship between CCR6 gene polymorphism and the pathogenesis of SLE in order to provide a theoretical basis for further revealing the pathogenesis of SLE. Objective to investigate the relationship between single nucleotide polymorphisms (SNPs) of CCR6 gene and the genetic susceptibility of Chinese Han population, and to analyze the relationship between CCR6 gene polymorphism and clinical features. Methods 760 SLE patients were collected from the first affiliated Hospital of Anhui Medical University and the Department of Rheumatology, Anhui Provincial Hospital. The control group consisted of 761 healthy volunteers from Anhui Medical University and a total of 761 medical examiners from the Health examination Center of the first affiliated Hospital of Anhui Medical University. The general demographics and clinical data of the subjects were collected by a self-designed questionnaire, and the venous blood was collected at 35 ml. Using Taq Man genotyping technique, CCR6 rs3093024 and rs1854853 loci were genotyped in patients with SLE and normal controls, and the distribution of alleles and genotypes in SLE patients and normal controls were analyzed. To explore the relationship between CCR6 gene polymorphism and common clinical features of SLE. Results the frequencies of A and G alleles at rs3093024 locus of CCR6 gene were 40.79% and 59.21% in SLE group, 42.38% and 57.62% in control group, respectively. The frequencies of AA AG and GG in SLE patients were 45.79% and 36.32, respectively, and those in the control group were 18.138.49% and 33.38%, respectively. There was no significant difference between genotype and SLE incidence. The results of genetic model analysis show that, No significant association was found between the dominant model AA AG vs.GG and the latent model AA vs.GG) and the susceptibility to SLE (P 0.05N. CCR6 allele G and A allele frequencies were found in similar SLE patients with SLE and control group.) there was no significant correlation between G and A allele frequencies in SLE patients and controls. 49.34% and 50.66% in the control group, 49.47% and 50.53% in the control group, respectively. There was no significant difference in the frequencies of the three genotypes (23.9595%, 50.79% and 25.26%, respectively). There was no significant difference in the frequencies of the three genotypes between the two groups (蠂 2 0.24 P 0. 885). The frequencies of the three genotypes in the control group were 24. 70% and 25. 76%, respectively (蠂 2 0.24 P 0. 88 5), and the frequencies of the three genotypes in the control group were 24. 70% and 25. 76%, respectively (蠂 2 0.24 P 0. 885). The results of genetic model analysis show that, There was no significant correlation between the dominant model (GG AG vs.AA) and the recessive model (GG vs.AA AGG) and the incidence of rs3093024 (P 0.05). The A allele of the CCR6 gene may be the protective factor of the disc erythema. The allele A was higher than the G allele (OR = 0.65495 CI: 0.4477.0.958) compared with the G allele. At the same time, there was no significant difference between the two alleles. The OR value of dominant model AA AG compared with GG was 0.539% 95% CI: 0.324% 0.89 5% Pao 0.016%. Conclusion CCR6 gene rs3093024 locus is not associated with susceptibility to SLE, but CCR6 gene rs1854853 locus is not associated with the pathogenesis and clinical characteristics of SLE.
【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】：2015
【分類號】：R593.241
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本文編號：2024454