趋化因子基因多态性与中国汉族人群中白塞氏疾病及小柳原田综合征易感性研究

发布时间：2018-04-08 18:11

本文选题：白塞氏病　切入点：小柳原田综合征　出处：《重庆医科大学》2017年硕士论文

【摘要】：目的趋化因子与葡萄膜炎密切相关,是葡萄膜炎发生发展中重要的炎性介质。前期我们报道了CCL2基因多态性与白塞氏病的相关性,在此研究中我们扩大了研究的趋化因子基因数量并且纳入了葡萄膜炎的另一种类型小柳原田综合征。旨在研究趋化因子基因单核苷酸多态性与中国汉族人白塞氏病以及小柳原田综合征的遗传易感性。方法运用Sequenom Mass ARRAY质谱技术、iPLEX Gold基因分型分析以及TaqMan荧光探针基因分型技术对371个白塞氏患者、371个小柳原田综合征患者以及605个正常对照人群进行病例对照实验,对12个趋化因子基因26个SNP位点进行基因分型分析。结果白塞氏病患者中有与来自5个趋化因子基因的5个SNP位点弱相关以及小柳原田综合征患者中有与来自3个趋化因子基因的3个SNP位点弱相关。在进行Bonferroni矫正后,白塞氏病患者以及小柳原田综合征患者与正常对照组比较26个SNP在基因型及等位基因频率的相关性消失。单倍体分析发现在小柳原田综合征与CXCL12基因的单倍体TC有显著相关(P=0.008,Pc=0.032,OR=0.745,95%CI=0.599-0.927)。对12个趋化因子基因的26个SNP位点在白塞氏病患者以及小柳原田综合征患者中进行性别以及主要症状的分层分析,在进行Bonferroni矫正后没有阳性发现。在所研究的趋化因子基因位点中MDR分析未发现有基因互作的关系。结论在此研究中我们没有发现12个趋化因子基因的26个SNP位点在中国汉族白塞氏病以及小柳原田综合征患者中有显著相关。CXCL12基因的单倍体TC与小柳原田综合征有保护性相关。
[Abstract]:Objective chemokines are closely related to uveitis and are important inflammatory mediators in the occurrence and development of uveitis.We have previously reported the association of CCL2 gene polymorphism with Behcet's disease. In this study we expanded the number of chemokine genes in the study and included another type of small willow Harada syndrome in uveitis.The aim of this study was to study the genetic susceptibility of chemokine gene single nucleotide polymorphisms to Behcet's disease and willow Harada syndrome in Chinese Han population.Methods using Sequenom Mass ARRAY mass spectrometry and TaqMan fluorescence probe genotyping technique, a case-control study was carried out in 371 patients with Pesse's syndrome and 605 normal controls.26 SNP loci of 12 chemokine genes were genotyped.Results there was a weak correlation between 5 SNP loci from 5 chemokine genes and 3 SNP loci from 3 chemokine genes in patients with Behcet's disease.After Bonferroni correction, the correlation between genotype and allele frequency of 26 SNP was disappeared in patients with Behcet's disease and in patients with Xiaoyanagata syndrome compared with normal controls.Haploid analysis showed that there was a significant correlation between the haploid TC of CXCL12 gene and the haploid TC of CXCL12 gene.26 SNP loci of 12 chemokine genes were analyzed by sex and main symptoms in patients with Behcet's disease and patients with Xiaoyanagata syndrome. No positive results were found after Bonferroni correction.No gene interaction was found in MDR analysis of chemokine loci studied.Conclusion in this study, we did not find 26 SNP loci of 12 chemokine genes in Chinese Han nationality patients with Behcet's disease and Xiaoyanagata syndrome. The haploid TC of CXCL12 gene was associated with the protective effect of Koyanagata 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】：2017
【分类号】：R773.9;R597.9

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