白细胞介素4受体Q576R基因多态性与支气管哮喘病人IgE的相关性

Association of Q576R polymorphism in the interleukin-4 receptor gene with serum IgE levels in children with asthma

目的白细胞介素4(IL-4)是哮喘发病机制中重要的细胞因子。该文探讨了白细胞介素4受体(IL-4R)基因Q576R多态性与儿童支气管哮喘及IgE水平的相关性。方法用聚合酶链反应/限制性片段长度多态性分析方法(PCR/RFLP),检测94例哮喘儿童和68例正常对照儿童IL-4R Q576R的多态性,并用酶联免疫吸附法(ELISA)检测两组儿童血浆总IgE的水平,然后进行χ2检验及成组t检验。结果IL-4R杂合突变基因型Q576R、突变等位基因R576的分布频率在哮喘儿童及正常对照儿童中分布频率分别为41%,16%及26%,16%,差异有显著性(P<0.01,<0.05);哮喘儿童中杂合突变基因型Q576R携带者与野生型Q576Q携带者比较,血浆总IgE水平分别为225.78±51.43 IU/mL、163.24±31.32 IU/mL,差异无显著性。结论IL-4R突变等位基因R576可能是儿童易感哮喘的一个候选基因;未发现IL-4R等位基因R576对哮喘儿童血浆总IgE水平升高有明显影响;白细胞介素4受体Q576R基因多态性与支气管哮喘有相关性。

Objective Interleukin-4 plays a key role in the development of asthma. Overseas studies have shown that Q576R polymorphism in the interleukin-4 receptor （ IL-4R ） gene is related to asthma as well as increased serum IgE levels. This study was designed to investigate the association of Q576R polymorphism in IL-4R gene with childhood asthma and serum IgE levels. Methods The polymorphism of IL-4R Q576R was determined by PCR/RFLP and serum total IgE level was measured using ELISA in 94 children with asthma. Sixty-eight healthy children served as controls. Results The distribution frequency of heterozygous genotype Q576R （41%） and mutant allele R576 （26%） was significantly higher in children with asthma than that of controls （ 16% each） （P 〈 0. 01 ; P 〈 0.05 ）. The total serum IgE level between patients with genotype Q576R and Q576Q was not significantly different （225.78±51.43 IU/mL vs 163.24±31.32 IU/mL, P 〉 0.05 ）. Condusions The mutant R576 allele of IL-4R may be one of the candidate genes for susceptibility to asthma. Allele R576 of IL-4R is related to asthma but is irrelevant to the total serum IgE level in children with asthma.