IL-17A及IL-17F基因多态与Behcet病和Vogt-小柳原田综合征遗传相关性研究

发布时间：2018-01-17 14:19

本文关键词：IL-17A及IL-17F基因多态与Behcet病和Vogt-小柳原田综合征遗传相关性研究　出处：《重庆医科大学》2011年硕士论文　论文类型：学位论文

【摘要】：目的:白介素17(Interleukin-17)是近年研究较集中的一类免疫相关细胞因子家族,研究发现其基因多态与多种自身免疫性疾病相关。本课题组的研究发现,IL-17的表达上调同Behecet’s病以及VKH综合症的发生和发展过程密切相关。因此,本实验的目的是探讨IL-17A及IL-17F基因单核甘酸多态(Single Nucleotide Polymorphism,SNP)与中国汉族人群Behcet’s病及VKH综合征的相关性。方法:选择中国汉族人群385例VKH综合征患者、362例Behcet’s病患者和412例健康对照者,从抗凝处理后的外周静脉血提取基因组DNA,利用用聚合酶链式反应(Polymerase Chain Reaction,PCR)扩增目的基因片段.限制性片段长度多态性(Restriction Fragment Length Polymorphism,RFLP)的方法,检测IL-17F及IL-17A基因各1个SNP位点(rs763780/IL-17F,rs2275913/IL-17A),用SPSS 10.0软件进行统计学分析,探讨上述2个SNP的多态性与中国汉族人群VKH综合征和Behcet’s病的相关性; 结果:1.IL-17F基因rs763780位点的T等位基因在VKH综合征患者中的频率显著高于健康对照(89.48 % VS 85.28 %,p=0.005, pc =0.030, OR =1.599, 95 % CI= 1.16 2.22);该多态位点的TT基因型在VKH综合征患者中的频率也显著高于健康对照中的频率(P=0.030,95% CI = 1.16 2.22)。 2. IL-17A基因多态位点rs2275913基因型的频率在VKH综合征患者和健康对照中的差异无统计学意义(p=0.268)。 3. IL-17A基因多态位点rs2275913等位基因的频率在VKH综合征患者和健康对照中的差异无统计学意义(p=0.162)。 4. IL-17A基因多态位点rs2275913及IL-17F基因多态位点rs763780的基因型和等位基因频率在Behcet’s病和正常对照的对比中没有发现统计学差异。结论: IL-17F基因rs763780位点的T等位基因和TT基因型与VKH综合征的易感性相关,提示IL-17的多态性与中国汉族VKH综合征易感性相关。
[Abstract]:Objective: Interleukin-17 (IL-17) is a family of immune-associated cytokines. It has been found that its gene polymorphism is associated with many autoimmune diseases. The up-regulation of IL-17 expression is closely related to the occurrence and development of Behecet's disease and VKH syndrome. The purpose of this study was to investigate the mononuclear Nucleotide Polymorphism of IL-17A and IL-17F gene. SNPs were associated with Behcet's disease and VKH syndrome in Chinese Han population. Methods: 385 VKH syndrome patients with Behcet's 's disease and 412 healthy controls were selected. Genomic DNA was extracted from peripheral venous blood after anticoagulant treatment and polymerase Chain Reaction was used. Restriction Fragment Length Polymorphism. Rs763780 / IL-17FN rs2275913 / IL-17A / rs763780 / rs2275913 / IL-17A / rs763780 / rs2275913 / IL-17A, respectively, were detected by RFLP. SPSS 10.0 software was used to analyze the relationship between the two SNP polymorphisms and VKH syndrome and Behcet's disease in Chinese Han population. Results the T allele frequency of rs763780 locus of IL-17F gene was significantly higher in patients with VKH syndrome than that in healthy controls. 89.48% vs 85.28%. P < 0.005, PC = 0.030, OR = 1.599, 95% CI = 1.16 / 2.22 / L; The frequency of TT genotype of this polymorphism was also significantly higher in patients with VKH syndrome than that in healthy controls (P = 0.030 95% CI = 1.16 / 2.22). 2. There was no significant difference in the frequency of rs2275913 genotypes between the patients with VKH syndrome and the healthy controls at the polymorphic site of IL-17A gene. 3. The frequency of rs2275913 alleles at the polymorphic site of IL-17A gene was not significantly different between VKH syndrome patients and healthy controls. 4. Genotypes and alleles of rs2275913 and IL-17F polymorphic rs763780 in Behcet's disease and normal controls. No statistical difference was found in the comparison. Conclusion: the T allele and TT genotype of rs763780 locus of IL-17F gene are associated with the susceptibility of VKH syndrome. The results suggest that the polymorphism of IL-17 is associated with the susceptibility to VKH syndrome in Chinese Han nationality.
【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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