白介素13基因多态性与哮喘发病易感性的关系

摘要

目的：探讨白介素13（IL-13）基因内含子区＋1923C/T多态性与哮喘发病易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性技术对150例哮喘患者（哮喘组）和150例健康对照者（对照组） IL-13基因内含子区＋1923 C/T单核苷酸多态性进行检测，比较其基因型和等位基因分布频率。结果对照组IL-13基因内含子区＋1923 C/T基因型CC、CT和TT的分布频率分别为41．33％（62/150）、44．00％（66/150）和14．67％（22/150），在哮喘组分别为21．33％（32/150）、41．33％（62/150）和37．34％（56/150），两组各基因型分布频率比较差异有统计学意义（χ2＝24．52，P＜0．01）。 CT、TT基因型者患哮喘的危险性高于CC基因型者（χ2＝27．38，P＜0．01）。结论 IL-13基因内含子区＋1923 C/T多态性是影响哮喘发病的重要候选基因，T等位基因与哮喘易感性相关。%Objective To investigate the correlation between the single nucleotide polymorphism ( SNP) of +1923 C/T in intron region of interleukin-13 (IL-13) gene and the susceptibility to asthma .Methods The genotypes and the allele frequency distributions of +1923 C/T SNP of IL-13 in 150 asthmatic patients and 150 healthy controls were detected by u-sing polymerase chain reaction-restriction fragment length polymorphism ( PCR-RFLP) methods.Results The genotype frequencies of CC, CT and TT in +1923C/T sites of IL-13 gene were 41.33% (62/150), 44.00% (66/150) and 14.67%(22/150) respectively in the controls, and 21.33%(32/150), 41.33%(62/150) and 37.34%(56/150) in the asthmatic subjects .The distribution of genotype in +1923 C/T sites of IL-13 gene between the two groups was signifi-cantly different (χ2 =24.52, P<0.01).The CT and TT genotypes carried higher risks for asthma than CC genotype (χ2 =27.39, P<0.01).Conclusion The +1923 sites polymorphism of IL-13 gene may be an important candidate gene for asthma and the T allele in the gene might be associated with the susceptibility to asthma .