本文關(guān)鍵詞：IL-17A及IL-17F基因多態(tài)與Behcet病和Vogt-小柳原田綜合征遺傳相關(guān)性研究　出處：《重慶醫(yī)科大學(xué)》2011年碩士論文　論文類型：學(xué)位論文

  更多相關(guān)文章： 白介素-17 基因多態(tài) Behecet’s病 VKH綜合征

【摘要】：目的:白介素17(Interleukin-17)是近年研究較集中的一類免疫相關(guān)細(xì)胞因子家族,研究發(fā)現(xiàn)其基因多態(tài)與多種自身免疫性疾病相關(guān)。本課題組的研究發(fā)現(xiàn),IL-17的表達(dá)上調(diào)同Behecet’s病以及VKH綜合癥的發(fā)生和發(fā)展過程密切相關(guān)。因此,本實驗的目的是探討IL-17A及IL-17F基因單核甘酸多態(tài)(Single Nucleotide Polymorphism,SNP)與中國漢族人群Behcet’s病及VKH綜合征的相關(guān)性。 方法:選擇中國漢族人群385例VKH綜合征患者、362例Behcet’s病患者和412例健康對照者,從抗凝處理后的外周靜脈血提取基因組DNA,利用用聚合酶鏈?zhǔn)椒磻?yīng)(Polymerase Chain Reaction,PCR)擴增目的基因片段.限制性片段長度多態(tài)性(Restriction Fragment Length Polymorphism,RFLP)的方法,檢測IL-17F及IL-17A基因各1個SNP位點(rs763780/IL-17F,rs2275913/IL-17A),用SPSS 10.0軟件進(jìn)行統(tǒng)計學(xué)分析,探討上述2個SNP的多態(tài)性與中國漢族人群VKH綜合征和Behcet’s病的相關(guān)性; 結(jié)果:1.IL-17F基因rs763780位點的T等位基因在VKH綜合征患者中的頻率顯著高于健康對照(89.48 % VS 85.28 %,p=0.005, pc =0.030, OR =1.599, 95 % CI= 1.16 2.22);該多態(tài)位點的TT基因型在VKH綜合征患者中的頻率也顯著高于健康對照中的頻率(P=0.030,95% CI = 1.16 2.22)。 2. IL-17A基因多態(tài)位點rs2275913基因型的頻率在VKH綜合征患者和健康對照中的差異無統(tǒng)計學(xué)意義(p=0.268)。 3. IL-17A基因多態(tài)位點rs2275913等位基因的頻率在VKH綜合征患者和健康對照中的差異無統(tǒng)計學(xué)意義(p=0.162)。 4. IL-17A基因多態(tài)位點rs2275913及IL-17F基因多態(tài)位點rs763780的基因型和等位基因頻率在Behcet’s病和正常對照的對比中沒有發(fā)現(xiàn)統(tǒng)計學(xué)差異。 結(jié)論: IL-17F基因rs763780位點的T等位基因和TT基因型與VKH綜合征的易感性相關(guān),提示IL-17的多態(tài)性與中國漢族VKH綜合征易感性相關(guān)。
[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.
【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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