新疆地区维吾尔族、汉族TAP1基因多态性与变应性鼻炎的关联性研究

发布时间：2018-05-19 04:40

本文选题：变应性鼻炎 + 抗原处理相关转运蛋白1　；参考：《新疆医科大学》2012年硕士论文

【摘要】：目的：研究新疆地区维吾尔族、汉族TAP1基因单核苷酸多态性的特点及其与变应性鼻炎的关系。方法：采用病例-对照研究方法，研究对象：病例组为300例（新疆维吾尔族变应性鼻炎患者150例，汉族变应性鼻炎患者150例），健康对照组为300例（门诊体检及耳鼻喉门诊健康对照维吾尔族150例，汉族150例），应用SNaPshot SNP分型技术对600例样本进行SNP位点分型，检测TAP1基因rs1057141（-1332A/G）、rs1135216（-2245A/G）、rs2071480(G/T)三个位点基因型频率和等位基因频率，进行Hardy-Weinberg平衡定律检验和单倍体及连锁不平衡分析。结果：（1）新疆维吾尔族、汉族TAP1基因rs1057141（-1332A/G）、rs1135216（-2245A/G）、rs2071480(G/T)三个位点基因型分布分别以A/A、A/A、G/G型多见，等位基因分布频率最高分别是A、A、G。维吾尔族和汉族rs1057141、rs1135216、rs2071480基因多态性位点分布有差别。都构成5种单倍型AAG、GGG、AAT、GGT、AGT，且三个单核苷酸多肽性位点间存在强的连锁不平衡；（2）同一民族中：汉族变应性鼻炎组与对照组间基因型和等位基因频率分布差异无统计学意义（P＞0.05）；维吾尔族变应性鼻炎组与对照组间rs1057141位点等位基因G频率分布差异有统计学意义（P＜0.05）。两民族中：维吾尔族与汉族健康对照组之间TAP1基因三个单核苷酸多态性位点基因型和等位基因分布频率差异有统计学意义（P＜0.05），维吾尔族与汉族变应性鼻炎病例组中， TAP1三个单核苷酸多肽性位点基因型和等位基因分布频率差异有统计学意义（P＜0.05）；（3）变应原皮肤点刺试验中，两民族变应性鼻炎组过敏原最高阳性率都是艾蒿和藜属，两民族间比较差异无统计学意义（P＞0.05）；（4）变应性鼻炎组与正常对照组比较血清总免疫球蛋白IgE明显偏高，差异有统计学意义（P＜0.05）。结论：（1）新疆维吾尔族人群TAP1基因单核苷酸多态性位点分布有别于其他地区人群，在后续研究中应参考维吾尔族人自己的测序数据；（2）新疆维吾尔族、汉族都存在TAP1基因rs1057141（-1332A/G）、rs1135216（-2245A/G）、rs2071480(G/T)多态性，，都以A/A、A/A、G/G基因型和A、A、G等位基因为主，三个单核苷酸多态性位点间存在强的连锁不平衡。两民族间TAP1三个单核苷酸多态性位点基因型及等位基因分布不同；（3）发现rs1057141（-1332A/G）位点G等位基因多态性与新疆维吾尔族变应性鼻炎发病相关联；（4）艾蒿和藜属是新疆维吾尔族、汉族变应性鼻炎患者的主要吸入变应原；（5）新疆维吾尔族、汉族变应性鼻炎患者血清总IgE明显高于正常人群。
[Abstract]:Objective: to study the characteristics of single nucleotide polymorphism (SNP) of TAP1 gene and its relationship with allergic rhinitis in Uygur and Han nationality in Xinjiang. Methods: a case-control study was carried out on 300 patients with allergic rhinitis in Xinjiang Uygur nationality. There were 150 cases of allergic rhinitis in Han nationality and 300 cases in healthy control group (150 Uygur and 150 Han nationality). SNP locus typing was performed on 600 samples by SNaPshot SNP typing technique. The genotypes and alleles frequencies of three loci of TAP1 gene rs1057141- 1332A / G ~ + rs11352216- 2245A / G / T were detected, and the Hardy-Weinberg equilibrium law and haploid and linkage disequilibrium analysis were performed. Results (1) in Xinjiang Uygur and Han nationality, the genotype distribution of TAP1 gene rs1057141- 1332A / rs1135216- 2245A / rs2071480G / T) was more common than that of Ar / AG / G / G, and the highest frequency of allele distribution was AHG. The distribution of rs1057141rs1135216rs2071480 polymorphism loci in Uygur and Han nationalities was different. All of them are composed of 5 haplotypes, AAGGG, AAT, GGG, AGTG, and there is a strong linkage disequilibrium between the three single nucleotide polypeptide loci.) there is no significant difference in genotype and allele frequency distribution between Han nationality allergic rhinitis group and control group. The allele G frequency of rs1057141 locus was significantly different between Uygur allergic rhinitis group and control group (P < 0.05). The genotypes and alleles of the three single nucleotide polymorphism loci of TAP1 gene in Uygur and Han healthy controls were significantly different (P < 0.05), and in the cases of allergic rhinitis of Uygur and Han nationality, there were significant differences in the distribution of genotypes and alleles between the two nationalities (P < 0.05). , the genotypes and alleles of three single nucleotide polypeptide loci in TAP1 were significantly different (P < 0.05). The highest positive rates of allergens in allergic rhinitis group were both Artemisia argyi and Chenopodium. There was no significant difference between the two groups (P > 0.05). The serum total immunoglobulin IgE in allergic rhinitis group was significantly higher than that in normal control group (P < 0.05). Conclusion the distribution of single nucleotide polymorphism (SNP) of TAP1 gene in Xinjiang Uygur population is different from that in other regions. In the follow-up study, we should refer to Uygur people's own sequencing data.) in Xinjiang Uygur nationality and Han nationality, there is a polymorphism of TAP1 gene rs1057141- 1332A / rs1135216-2245A / rs2071480G / T) in Xinjiang Uygur nationality and Han nationality. The alleles of A / G genotype and A / A G / G allele were dominant, and there was a strong linkage disequilibrium among the three single nucleotide polymorphism loci (SNP). The genotype and allele distribution of three single nucleotide polymorphisms (SNP) loci of TAP1 were different between the two peoples.) it was found that the G allele polymorphism at rs1057141- 1332A / G) locus was associated with allergic rhinitis in Xinjiang Uygur nationality.) Artemisia artemisia and Chenopodium were Xinjiang Uygur nationality. The main inhaled allergens in patients with allergic rhinitis were Xinjiang Uygur nationality and Han nationality patients with allergic rhinitis. The total serum IgE of patients with allergic rhinitis was significantly higher than that of normal subjects.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R765.21

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