新疆维吾尔族、汉族CD14基因多态性与变应性鼻炎的关联研究

发布时间：2018-04-23 16:22

本文选题：维吾尔族 + 汉族　；参考：《新疆医科大学》2011年硕士论文

【摘要】：目的：研究新疆地区维吾尔族、汉族CD14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：首先采用直接测序的方法检测32例正常维吾尔族人CD14基因全长,确定维吾尔族人群CD14基因SNPs的位置、类型和频率。再从中选取三个高频标签SNP进行病例对照的关联研究。对象为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,作为病例组,健康对照组300例(维、汉各150例)。应用SNaPshot SNP分型技术对600例样本进行SNP位点分型,检测CD14基因rs2569190(-159T/C)、rs2569192(C/G)、rs3138078(-1359G/T)三个位点基因型频率和等位基因频率。同时比较不同基因型的血浆IgE水平。结果：1)正常维吾尔族人群CD14基因全长序列里发现了11个SNP位点,2个是新发现的低频SNP,这11个位点彼此都处于高度的连锁不平衡。其中rs2569192、rs4914、rs2569190、rs2569191在维吾尔族人的分布与北京汉族人、日本人、欧洲人、非洲人明显不同,差异有统计学意义(P0.05)；2)新疆维吾尔族、汉族CD14基因rs2569190(-159T/C)、rs2569192(C/G)、rs3138078(-1359G/T)三个位点基因型分布均以CT、CC、GG型多见,等位基因分布频率最高分别是T、C、G。维吾尔族和汉族CD14基因三个多态性位点分布无差别。都构成4种单倍型TCG、CCT、CGG、CCG,且三个SNP位点间存在强的连锁不平衡；3)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(P0.05)；维吾尔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(P0.05)。维汉正常对照组之间CD14基因三个位点基因型和等位基因分布频率差异无统计学意义(P0.05)；变应性鼻炎组中,维吾尔族与汉族rs2569192(C/G)位点基因型和等位基因分布频率差异有统计学意义(P0.05)；其他两个位点比较差异无统计学意义(P0.05)；4)变应原皮肤点刺试验中,维汉变应性鼻炎组最高阳性率都是艾蒿和藜属,维汉比较差异无统计学意义(P0.05)；5)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(P0.05)。CD14不同基因型与IgE水平无关。结论：1)新疆维吾尔族人群CD14基因SNPs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已的测序数据；2)新疆维吾尔族、汉族都存在CD14基因rs2569190(-159T/C)、rs2569192(C/G)、rs3138078(-1359G/T)多态性,,都以CT.CC.GG基因型和T、C、G等位基因为主,三个SNP位点间存在强的连锁不平衡。维汉没有发现差异；3)未发现CD14基因三个位点rs2569190(一159T/C).rs2569192(C/G)、rs3138078(-1359G/T)多态性与新疆维汉变应性鼻炎发病之间的关联；4)艾蒿和藜属是新疆维汉变应性鼻炎患者的主要吸入变应原；5)新疆维汉变应性鼻炎患者血清总IgE明显高于正常人群。CD14不同基因型与IgE水平无关。
[Abstract]:Objective: to study the characteristics of single nucleotide polymorphism (SNP) of CD14 gene and its relationship with allergic rhinitis in Uygur and Han nationality in Xinjiang. Methods: the full length of CD14 gene was detected by direct sequencing in 32 normal Uygur subjects. The location, type and frequency of CD14 gene SNPs in Uygur population were determined. Three high-frequency label SNP were selected for case-control study. Participants were 150 cases of allergic rhinitis in Xinjiang Uygur nationality and 150 cases of allergic rhinitis in Han nationality. SNP locus typing was carried out in 600 samples by SNaPshot SNP typing technique. The genotypes and alleles frequencies of CD14 gene rs2569190 ~ 159T / C / rs25691922 ~ (rs3138078-1359G / T) were detected. At the same time, the plasma IgE levels of different genotypes were compared. Results (1) 11 SNP loci were found in the full-length sequence of CD14 gene in normal Uygur population, 2 of which were newly discovered low-frequency SNP loci, and the 11 loci were in high linkage disequilibrium with each other. The distribution of rs2569192rs4914- rs2569190 rs2569191 in Uygur is obviously different from that of Han, Japanese, European and African people in Beijing, and the difference is statistically significant (P 0.05)) in Xinjiang Uygur and Han nationality, the CD14 gene rs2569190-159Tr / Crs2569 ~ (1922) rs3138078- 1359Gr / T were all found in CTCC-GG genotype. The highest frequency of allelic distribution was TGG. There was no difference in the distribution of three polymorphic loci of CD14 gene between Uygur and Han nationality. All of them constitute four haplotypes, and there is a strong linkage disequilibrium between the three SNP loci in the same ethnic group. There was no significant difference in genotype and allele frequency distribution between Han nationality allergic rhinitis group and control group, but there was no significant difference in genotype and allele frequency distribution between Uygur allergic rhinitis group and control group. There was no significant difference in genotype and allele frequency of CD14 gene between Uygur and Han normal controls, while in allergic rhinitis, there was no significant difference in genotype and allele distribution. There was significant difference in genotype and allele distribution frequency between Uygur and Han nationality in rs25691922 C / G locus (P 0.05), but there was no significant difference between the other two loci in the skin prick test of allergen. The highest positive rates in Uygur allergic rhinitis group were Artemisia argyi and Chenopodium, but there was no significant difference between Uygur and Chinese. The total immunoglobulin IgE in allergic rhinitis group was significantly higher than that in normal control group. The difference was statistically significant. There was no correlation between the different genotypes of P0.05 and CD14 and the level of IgE. Conclusion the distribution of CD14 gene SNPs in Xinjiang Uygur population is different from that in other regions. The CD14 gene rs2569190-159T / rs25691922 rs3138078- 1359G / T polymorphism was found in all Han people, and the CT.CC.GG genotype and the TGG allele were dominant. There was a strong linkage disequilibrium among the three SNP loci. CD14 gene rs2569190 (rs2569190 (-159T / C, rs25691922) polymorphism of rs3138078-1359G / T is associated with Xinjiang Uyghan allergic rhinitis. Artemisia Artemisia and Chenopodium are the main inhaled allergens of Uyghan allergic rhinitis in Xinjiang. The serum total IgE of Uygur allergic rhinitis patients was significantly higher than that of normal subjects. The different genotypes of CD14 had no correlation with IgE level.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R765.21

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