IL-2、IL-2Rα及IFN-γ基因多态性与汉族儿童支气管哮喘的关联  

Association of IL-2, IL-2Rα and IFN-γ gene polymorphisms with bronchial asthma in Chinese Han children

作　　者：郑绪阳 陈岳明 刘占利 汤慧芳[3] 黄先玫 杨一华 盛文彬 ZHENG Xuyang;CHEN Yueming;LIU Zhanli(Department of Pediatrics,Hangzhou First People＇s Hospital,Hangzhou 310006,China)

机构地区：[1]浙江大学医学院附属杭州市第一人民医院儿科,310006 [2]浙江大学医学院附属杭州市第一人民医院检验科,310006 [3]浙江大学医学院基础系

出　　处：《浙江医学》2018年第20期2211-2215,共5页Zhejiang Medical Journal

基　　金：浙江省科技厅项目(2017C37132);杭州市卫生与计生科技项目(2014A01)

摘　　要：目的探讨IL-2 (rs6822844)、IL-2Rα(rs2104286)及IFN-γ(rs2430561)多态性位点与汉族儿童支气管哮喘的关联。方法选取144例汉族支气管哮喘患儿为研究组,并以性别、年龄配对的228例汉族无支气管哮喘儿童作为对照组。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测IL-2 (rs6822844)、IL-2Rα(rs2104286)及IFN-γ(rs2430561)的等位基因及基因型;采用实时荧光PCR检测对照组IL-2Rα各基因型外周血IL-2RαmRNA相对表达量,采用ELISA检测其各基因型血浆s IL-2Rα水平。结果 IL-2Rα(rs2104286)位点等位基因A在研究组分布频率(86.8%)高于对照组(79.4%)(OR=1.708,95%CI:1.113～2.629,P=0.010);研究组中AA基因型患者分布频率(75.0%)高于对照组(62.3%)(OR=1.745,95%CI:1.058～2.884,P=0.021);未发现IL-2 (rs 6822844)位点有多态性分布,IFN-γ(rs 2430561)位点等位基因及基因型频率在两组中分布差异均无统计学意义(P=0.182、0.205、0.421)。研究组中IL-2Rα(rs2104286)位点AA基因型个体外周血IL-2RαmRNA相对表达量以及血浆s IL-2Rα水平均显著高于AG基因型(P=0.043、0.018)。结论 IL-2Rα(rs2104286)位点可能与汉族儿童支气管哮喘发生相关,而且该位点可能影响其转录表达。Objective To investigate the association of the polymorphisms of IL-2 （rs6822844）, IL-2Rα （rs2104286） andIFN-γ （rs2430561） genes with the susceptibility of bronchial asthma in children of Han nationality. Methods One hundred andforty four Chinese Han children with bronchial asthma （case group） and 228 age and sex-matched healthy children （controlgroup） were recruited. The polymorphisms of IL-2 （rs6822844）, IL-2Rα （rs2104286） and IFN-γ （rs2430561） genes wereexamined with the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）; the relative expressionof IL-2Rα mRNA in periphery blood was analyzed by real-time PCR, and plasma levels of sIL-2Rα were detected by theenzyme-linked immunosorbent assay （ELISA） . Results There was no significant difference in the distribution and genotypefrequencies of IL-2 （rs682284） and IFN-γ（rs2430561） allele between the case group and control group （P=0.182, 0.205, 0.421）.Allele frequency distribution of IL-2Rα （rs2104286） genotype A in case group （86.8%） was higher than the control group （79.4%）（OR =1.708, 95% CI 1.113-2.629, P =0.010）. In the case group, the frequency distribution of AA genotype （75%） was higher thanthat in control group （62.3%） （OR =1.745, 95% CI：1.058-2.884, P=0.021）. In the case group, the relative expression of IL-2RαmRNA in peripheral blood and plasma sIL-2Rα levels of patients with AA genotype were significantly higher than those with AGgenotype （P =0.043; P =0.018）. Conclusion The IL-2R （rs2104286） locus may be associated with bronchial asthma in childrenof Han nationality, and the polymorphismmay affect its transcriptional expression.

关 键 词：支气管哮喘 单核苷酸多态性 白介素2 白介素2受体 Γ-干扰素 

分 类 号：R725.6[医药卫生—儿科]