摘要目的 探讨白细胞介素1受体相关激酶4( interleukin-1 receptor associated kinase 4,IRAK-4)基因单核苷酸多态性(single-nucleotide polymorphism,SNP)与中国人群变应性鼻炎(allergic rhinitis,AR)的遗传相关性模式.方法 以中国北京地区居住的379例确诊的AR患者和333例健康对照人群为研究对象,根据Hapmap网站公布的中国北京地区人群的IRAK4基因标签SNP位点信息,选取覆盖IRAK-4整个基因的代表性标签SNP位点共8个,在MassARRAY实验平台完成SNP位点的基因型检测,以SPSS 13.0软件进行统计学分析.结果 根据变应原种类进行遗传相关性的分层分析,结果显示只有单纯尘螨过敏的AR患者中,IRAK-4基因的位点rs3794262(P=0.0034,OR=1.7388)和位点rs4251481(P=0.0023,OR=2.6593)与发病具有相关性,而各候选位点的SNP与花粉以及混合过敏的AR无相关性.结论 IRAK-4基因的SNP与中国人群AR的遗传相关性存在变应原依赖模式.

abstractsObjective To investigate the genetic association pattern between single-nucleotide polymorphisms (SNP) in the interleukin-1 receptor-associated kinase 4 (IRAK-4) gene and allergic rhinitis (AR).Methods A population of 379 patients with the diagnosis of AR and 333 healthy controls who lived in Beijing region was recruited. A total of 8 reprehensive marker SNP which were in IRAK-4 gene region were selected according to the Beijing people database from Hapmap website.The individual genotyping was performed by MassARRAY platform.SPSS 13.0 software was used for statistic analysis.Results Subgroup analysis for the presence of different allergen sensitivities displayed associations only in the house dust miteallergic cohorts ( rs3794262:P =0.0034,OR =1.7388 ; rs251481:P =0.0023,OR =2.6593 ),but not in subjects who were allergic to pollens as well as mix allergens.Conclusion The potential genetic contribution of the IRAK-4 gene to AR demonstrated an allergen-dependant association pattern in Chinese population.