哮喘儿童白细胞介素13基因型与表型的关联研究

目的探讨哮喘儿童白细胞介素13(IL-13)Arg130Gln基因型与血清总IgE、IL-13水平及过敏原表型之间的关系。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)法,对130例哮喘患儿和100例健康对照儿童进行IL-13Arg130Gln基因多态性的检测,并用酶免法检测血清总IgE、IL-13水平和空气过敏原。结果基因型分布及等位基因频率哮喘组与对照组比较差异均无显著性,哮喘组突变型个体的Log10IL-13水平高于未突变型个体的水平(P<0.05),哮喘组突变纯合型个体的Log10IgE水平高于突变杂合型及未突变型个体的水平(P<0.05),哮喘组及对照组突变型与未突变型的过敏原阳性率比较差异均无显著性。结论IL-13Arg130Gln突变不是中国长春地区儿童哮喘的易感基因,但此突变可能与血清IL-13蛋白质水平升高有关,突变纯合型可能与血清总IgE水平相关联。

Correlationship between interleukin-13 genotype and phenotype in children with bronchial asthma

Objective To explore the correlationship between Arg130Gln in the IL-13gene and serum totalimmunoglobulin E(IgE),IL-13levels and aeroallergen.Methods Polymerase chain reaction-restriction fragment length polymorphism(RCR-RFLP)was used to determine the gene polymorphism in130children with asthma and100normal controls.Total IgE,IL-13levels and aeroallergen were detected with ELISA. Results There was no difference between asthmatic children and normal controls in genotype distribution and allele frequency of IL-13Arg130Gln gene polymorphism.Log 10 IL-13titer levels in patients with gene mutationwere higher than those without mutation(P<0.05).Log 10 IgE titer levels in patients with mutation homozygotes were higher than those in patients with mutation heterozygotes and without gene mutation(P <0.05).There was no significant difference between the patients with and without gene mutation in the positive rates of allergen.Conclusions IL-13Arg130Gln gene mutation was not the risk factor in children with asthma at Changchun.This mutation maybe related to the elevation of IL-13level,and the homologous mutation maybe closely related to the total serum IgE level.