白细胞介素-6受体基因非同义变异rs2228145和中国过敏性鼻炎病人的相关性研究

发布时间：2018-03-06 06:20

本文选题：过敏性鼻炎　切入点：哮喘　出处：《首都医科大学学报》2017年05期 　论文类型：期刊论文

【摘要】：目的过敏性鼻炎是鼻部黏膜的慢性炎性疾病,其发病受遗传和环境因素双重影响,过敏性鼻炎和哮喘在临床表现和遗传基础具有交叉重叠。本研究拟对在全基因组关联分析中发现的和哮喘相关的白细胞介素-6受体(interleukin-6 receptor,IL-6R)基因的rs2228145位点进行分析,检测其和中国过敏性鼻炎病人的相关性。方法收集402例明确诊断为过敏性鼻炎病人,以及416例正常对照,所有个体均为中国汉族。从外周血白细胞提取基因组DNA,应用时间飞行质谱的方法进行基因分型。结果等位基因分析显示过敏性鼻炎及正常对照在IL-6R基因的rs2228145位点等位基因频率存在差异(P=0.0039,Pcorrected=0.001 6)。基因型分析进一步验证了该位点和过敏性鼻炎的相关性,共显性模型(PA/C vs A/A=0.000,ORA/C vs A/A=0.546,95%CI:0.389~0.766)和显性模型(PA/C+C/C vs A/A=0.001,ORA/C+C/C vs A/A=0.575,95%CI:0.418~0.790)分析在病例组和对照组差异有统计学意义。结论结果提示和哮喘相关基因IL-6R的rs2228145位点和过敏性鼻炎的发病有关,可降低其发病的风险。
[Abstract]:Objective allergic rhinitis is a chronic inflammatory disease of nasal mucosa, which is affected by both genetic and environmental factors. The clinical manifestations and genetic basis of allergic rhinitis and asthma are overlapping. In this study, the rs2228145 locus of interleukin-6 receptor interleukin-6 receptor interleukin-6 receptor IL-6R, which was found in the whole genome association analysis, was analyzed. Methods 402 patients with allergic rhinitis and 416 normal controls were collected. All individuals were Chinese Han nationality. Genomic DNA was extracted from peripheral blood leukocytes and genotyped by time-of-flight mass spectrometry. Results allelic analysis showed that allelic rhinitis and normal controls were at rs2228145 loci of IL-6R gene. The allele frequency was different. The genotype analysis further verified the correlation between this locus and allergic rhinitis. Co-dominant model PA-P / C vs Ar / A0.000 ORAP / C vs A / A0.54695 CI: 0.389C / 0.766) and the dominant model PAP / C / C vs A / A0.001ORAC / C / C vs Ar / A0.57595CI0.418180.790) Analysis was statistically significant in the case group and the control group. Conclusion the results suggest that there is a correlation between the rs2228145 site of the asthmatic gene IL-6R and the pathogenesis of allergic rhinitis. It can reduce the risk of the disease.
【作者单位】：首都医科大学附属北京同仁医院过敏科;北京市耳鼻咽喉科研究所鼻病研究北京市重点实验室;首都医科大学附属北京同仁医院耳鼻咽喉头颈外科;
【基金】：国家自然科学基金(81400470,81570895) 北京市卫生系统高层次卫生技术人才科研骨干项目(2014-3-015)~~
【分类号】：R765.21

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