IL-2及IL-2Rα基因多态性与汉族儿童支气管哮喘的关联

摘要

Objective To investigate the relationship between IL-2 (rs6822844) and IL-2Rα (rs2104286) gene Polymorphisms and bronchial asthma in Chinese Han children.Methods A gender and age-matched case control study was conducted.A total of 144 children with bronchial asthma were enrolled into the case group and 228 healthy children into the control group randomly.The genotypes were determined by direct sequencing for the products of fluorescent quantitative polymerase chain reaction (PCR).The relative expression of IL-2Rα mRNA in the peripheral blood was analyzed by real-time fluorescent PCR.The expression levels of plasma sIL-2Roα were detected by enzyme-linked immunosorbent assay (ELISA) for the different genotype carriers in the control group.Results The allele A distribution frequency of IL-2Rα (rs2104286) in the case group (86.8％) was significantly higher than that of the control group (79.4％) [(O)R=1.708 (95％CI:1.113,2.629),P=0.010].The AA genotype frequency distribution in the case group (75.0％)was higher than that of the control group (62.3％) [(O)R=1.745 (95％ CI:1.058,2.884),P =0.021].The polymorphism distribution of IL-2 (rs6822844) was not found in the study.Additionally,both relative expression of IL-2Roα mRNA in the peripheral blood and the plasma sIL-2Roα level of the individuals with AA genotype were significantly higher than those with AG genotype in the control group (P=0.043 and 0.018,respectively).Conclusions The gene polymorphism of IL-2Rα (rs2104286) may be associated with the occurrence of bronchial asthma in Chinese Han children,and may regulate gene transcription and expression.%目的 探讨IL-2(rs6822844)及IL-2Rα(rs2104286)基因多态性和汉族儿童支气管哮喘发生的关联.方法 随机选取144例支气管哮喘患儿为病例组,228例健康儿童为对照组.用实时荧光定量聚合酶链反应(qRT-PCR)直接测序鉴定各位点基因型;同时采用qRT-PCR检测对照组IL-2Rα各基因型外周血IL-2R α信使核糖核酸(mRNA)相对表达量,采用酶联免疫吸附试验(ELISA)检测各基因型血浆sIL-2Rα水平.结果 IL-2Rα (rs2104286)位点等位基因A在病例组分布频率(86.8％)高于对照组(79.4％)((O)R=1.708,95％ CI:1.113,2.629,P=0.010),病例组中AA基因型分布频率(75.0％)高于对照组(62.3％)((O)R=1.745,95％CI:1.058,2.884,P=0.021);未发现IL-2(rs6822844)位点有多态性分布.对照组中IL-2Rα (rs2104286)位点AA基因型个体外周血IL-2R oαmRNA相对表达量以及血浆sIL-2R α水平均高于AG基因型(Z=-2.029和-2.361,P=0.043和0.018).结论 IL-2Rα (rs2104286)基因多态性可能与汉族儿童支气管哮喘发生相关,而且该位点基因型可影响其转录及表达.