白介素-13基因多态性与哮喘的相关性研究

目的探讨白介素-13(IL-13)基因多态性与哮喘的相关性。方法用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法检测96例汉族哮喘儿童及96名汉族健康儿童IL-13基因内含子区+1923位点的基因型和等位基因频率,分析此位点单核苷酸多态性与哮喘的易感性、血浆总IgE(TIgE)、IL-13水平的相关性。结果+1923位点等位基因C、T频率在两组间分布具有显著性差异(P<0.01),等位基因T与哮喘关联,OR(T/C)=1.87,95%CI=1.25～2.80,P<0.01。两组基因型(TT、CT、CC)频率的分布亦有显著性差异(P<0.01),哮喘组中TT、CT基因型人群外周血IL-13及TIgE水平与同组及对照组CC基因组比较有显著性差异(P<0.01)。结论 IL-13基因+1923位点多态性是影响哮喘的重要候选基因,T等位基因与哮喘关联,并可能通过增强IL-13基因的表达影响血浆总IgE水平。

Study on the correlation between asthma and IL-13 gene polymorphism

Objective To discuss the association between asthma and IL-13 gene polymorphism.Methods A total of 192 children(the Han nationality) including 96 asthma and 96 control subjects were recruited.PCRRFLP was used to detect the IL-13+ 1923 SNPs.The differences of geneotype and allele frequency between the two groups were analyzed,so as to analyse the correlation of SNP with asthma susceptibility,total plasma IgE and IL-13 level.Results The allele frequencies of C,T at IL-13+1923 site were evidently different between the two groups(P<0.01),indicating allele T correlates with asthma,OR(T/C)=1.89,95%CI=1.25-2.80,P<0.01.The difference of genotype frequencies(TT,CT,CC) of the two groups also was significant(P<0.01).The IL-13 and TIgE level of TT,CT genomic persons was evidently different from other genomic persons in asthma group and that in healthy group(P<0.01).Conclusion IL-13 gene +1923 site polymorphism is of an important candidate genes that affect asthma,T allele is associated with asthma and may affect the total plasma IgE level by enhancing the expression of L-13.