IL23R基因多态与Behcet
发布时间：2018-10-14 12:09
【摘要】：目的:白介素23受体(IL23R)在最近研究热门的IL23/IL17这条通路中发挥着重要作用。IL23与IL23R结合激活TH17细胞分泌IL17这个重要的炎症因子。本课题组的研究表明:IL23/IL17通路在Behcet病和Vogt-小柳原田综合征的发生和发展过程中起重要作用。最近的研究发现IL23R多态与克罗恩病、白癜风等多个自身免疫病相关。为此,本实验旨在探讨IL23R基因多态是否与中国汉族Behcet病、Vogt-小柳原田综合征和Fuchs’综合征相关。 方法: PCR-RFLP和测序的方法对338例Behcet患者、382例Vogt-小柳原田综合征、138例Fuchs综合征和407例正常对照IL23R基因四个多态位点(rs17375018, rs7517847, rs11209032, rs1343151)进行基因分型。 结果:正常人的IL23R基因的4个SNP的分型结果符合哈迪温伯格平衡,p均大于0.05。Behcet病患者的IL23R基因的rs11209032 AA基因型和rs17375018 GG基因型的频率均显著高于对照组(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等位基因的频率也高于对照组(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位点等位基因和基因型频率分布,Behcet病患者和正常对照组均无显著差异。单倍体分析表明:在Behcet病患者中,rs17375018 A, rs7517847G, rs1343151C和rs11209032G单体型频率显著低于对照组(p0.001,OR 0.59,95% CI 0.45～0.77)。而其他的单倍体型的频率在病人和正常对照组之间均无统计学差异。 正常人的IL23R基因的4个SNP的分型结果符合哈迪温伯格平衡,p均大于0.05。Vogt-小柳原田综合征患者的IL23R基因4个SNP的等位基因、基因型频率和单倍体型与正常对照组之间均无统计学差异。正常对照组的IL23R基因的3个SNP(rs11209032, rs17375018和rs7517847)的基因分型结果符合哈迪温伯格平衡,p值均大于0.05。rs11209032的基因型AA的频率在Fuchs'综合征的患者中显著高于正常对照(pc=0.036, OR 1.86, 95%CI 1.21- 2.86)。所研究的IL23R基因的其他位点的基因型和等位基因频率在病人和正常对照组之间均无统计学差异。 结论: IL23R基因多态与Behcet病发病有关。rs11209032位点AA基因型和rs17375018位点GG可能是Behcet病的易感基因,而rs17375018 A、rs7517847G、rs1343151C和rs11209032G单体型则提示Behcet病的保护因素。IL23R基因多态与Vogt-小柳原田综合征无相关性。IL23R基因多态和Fuchs综合征相关。
[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.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R773.5
本文编号：2270408
[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.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R773.5
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