【摘要】：目的:白介素23受體(IL23R)在最近研究熱門的IL23/IL17這條通路中發(fā)揮著重要作用。IL23與IL23R結(jié)合激活TH17細(xì)胞分泌IL17這個重要的炎癥因子。本課題組的研究表明:IL23/IL17通路在Behcet病和Vogt-小柳原田綜合征的發(fā)生和發(fā)展過程中起重要作用。最近的研究發(fā)現(xiàn)IL23R多態(tài)與克羅恩病、白癜風(fēng)等多個自身免疫病相關(guān)。為此,本實驗旨在探討IL23R基因多態(tài)是否與中國漢族Behcet病、Vogt-小柳原田綜合征和Fuchs’綜合征相關(guān)。 方法: PCR-RFLP和測序的方法對338例Behcet患者、382例Vogt-小柳原田綜合征、138例Fuchs綜合征和407例正常對照IL23R基因四個多態(tài)位點(rs17375018, rs7517847, rs11209032, rs1343151)進行基因分型。 結(jié)果:正常人的IL23R基因的4個SNP的分型結(jié)果符合哈迪溫伯格平衡,p均大于0.05。Behcet病患者的IL23R基因的rs11209032 AA基因型和rs17375018 GG基因型的頻率均顯著高于對照組(p=0.024,OR 1.69,95% CI 1.21～2.35;p0.001,OR 1.86,95% CI 1.39～2.49);rs11209032 A等位基因和rs17375018的G等位基因的頻率也高于對照組(p0.001,OR 1.48,95% CI 1.21～1.82;p0.001,OR 1.57,95% CI 1.25～1.98)。在IL23R基因的rs1343151和rs7517847位點等位基因和基因型頻率分布,Behcet病患者和正常對照組均無顯著差異。單倍體分析表明:在Behcet病患者中,rs17375018 A, rs7517847G, rs1343151C和rs11209032G單體型頻率顯著低于對照組(p0.001,OR 0.59,95% CI 0.45～0.77)。而其他的單倍體型的頻率在病人和正常對照組之間均無統(tǒng)計學(xué)差異。 正常人的IL23R基因的4個SNP的分型結(jié)果符合哈迪溫伯格平衡,p均大于0.05。Vogt-小柳原田綜合征患者的IL23R基因4個SNP的等位基因、基因型頻率和單倍體型與正常對照組之間均無統(tǒng)計學(xué)差異。正常對照組的IL23R基因的3個SNP(rs11209032, rs17375018和rs7517847)的基因分型結(jié)果符合哈迪溫伯格平衡,p值均大于0.05。rs11209032的基因型AA的頻率在Fuchs'綜合征的患者中顯著高于正常對照(pc=0.036, OR 1.86, 95%CI 1.21- 2.86)。所研究的IL23R基因的其他位點的基因型和等位基因頻率在病人和正常對照組之間均無統(tǒng)計學(xué)差異。 結(jié)論: IL23R基因多態(tài)與Behcet病發(fā)病有關(guān)。rs11209032位點AA基因型和rs17375018位點GG可能是Behcet病的易感基因,而rs17375018 A、rs7517847G、rs1343151C和rs11209032G單體型則提示Behcet病的保護因素。IL23R基因多態(tài)與Vogt-小柳原田綜合征無相關(guān)性。IL23R基因多態(tài)和Fuchs綜合征相關(guān)。
[Abstract]:Aim: Interleukin-23 receptor (IL23R) plays an important role in the recently studied hot IL23/IL17 pathway. IL23 binds with IL23R to activate TH17 cells to secrete IL17, an important inflammatory factor. Our study shows that the IL23/IL17 pathway plays an important role in the occurrence and development of Behcet disease and Vogt- willow Harada syndrome. Recent studies have found that IL23R polymorphisms are associated with multiple autoimmune diseases such as Crohn's disease and vitiligo. The aim of this study was to investigate whether the polymorphism of IL23R gene was associated with Behcet disease, Vogt- willow Harada syndrome and Fuchs' syndrome in Chinese Han nationality. Methods: four polymorphic loci (rs17375018, rs7517847, rs11209032, rs1343151) of IL23R gene in 338 patients with Behcet, 382 patients with Vogt- Xiaoyanagata syndrome, 138 patients with Fuchs syndrome and 407 normal controls were genotyped by PCR-RFLP and sequencing. Results: the results of 4 SNP genotyping of IL23R gene in normal subjects were in accordance with Hardy Weinberg equilibrium. The frequencies of rs11209032 AA genotype and rs17375018 GG genotype of IL23R gene in patients with 0.05.Behcet disease were significantly higher than those in control group (p0.024 OR 1.6995% CI 1.21C 2.35p 0.001 OR 1.8695%). The frequency of rs11209032 A allele and G allele of rs17375018 were also higher than that of control group (p0.001OR 1.48V 95% CI 1.211.82P 0.001 OR 1.5795% CI 1.251.98), and the frequency of rs11209032 A allele and rs17375018 G allele was also higher than that of control group. There was no significant difference in the alleles and genotype frequencies of rs1343151 and rs7517847 loci between patients with Behcet disease and normal controls. Haploid analysis showed that the haplotype frequencies of rs17375018 A, rs7517847G, rs1343151C and rs11209032G in patients with Behcet disease were significantly lower than those in control group (p0.001OR 0.5995% CI 0.450.77). There was no significant difference in the frequency of other haplotypes between patients and normal controls. The results of 4 SNP genotyping of IL23R gene in normal subjects were in accordance with Hardy Weinberg equilibrium, p > 0.05. The alleles of IL23R gene 4 SNP in patients with Oogt- Kojuniada syndrome. There was no significant difference in genotype frequency and haploid type between normal control group and genotype frequency. The genotyping results of three SNP (rs11209032, rs17375018 and rs7517847) of IL23R gene in normal control group were in accordance with Hardy Weinberg equilibrium. The frequency of AA genotype in Fuchs' syndrome group was significantly higher than that in Fuchs' syndrome group (pc=0.036, OR 1.86, 95%CI 1.21 -2.86). The genotypes and allelic frequencies of other IL23R loci in the study were not significantly different between patients and normal controls. Conclusion: the polymorphism of IL23R gene is related to the pathogenesis of Behcet disease. AA genotype at rs11209032 locus and GG at rs17375018 locus may be susceptible genes to Behcet disease. However, rs17375018 rs7517847 G rs1343151C and rs11209032G haplotype indicated the protective factors of Behcet disease. There was no correlation between IL23R gene polymorphism and Vogt- willow Harada syndrome. IL23R gene polymorphism was associated with Fuchs syndrome.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2011
【分類號】：R773.5

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