白介素13基因+1923C/T及+2044G/A多态性与支气管哮喘的相关性研究

Correlation analysis between +1923C/T and +2044G/A polymorphisms in IL-13 gene and asthma

目的探讨白细胞介素13(IL-13)基因第3内含子+1923C/T及第4外显子+2044G/A多态性与哮喘的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测100例哮喘患者和100例健康人群IL-13基因+1923C/T及+2044G/A位点单核苷酸多态性,分析其基因型和等位基因分布频率。结果 IL-13+1923C/T位点基因型CC、CT和TT在哮喘组分布频率为21.0%、41.0%和38.0%,对照组为41.0%、44.0%和15.0%。IL-13+2044G/A位点基因型GG、GA和AA在哮喘组分布频率为51.0%、39.0%和10.0%,对照组为70.0%、25.0%和5.0%。IL-13+1923C/T和+2044G/A位点各基因型分布在两组间差异有统计学意义(χ2=16.54,P<0.01;χ2=7.71,P<0.05)。结论 IL-13基因+1923C/T和+2044G/A多态性与哮喘易感性相关,携带+1923T或+2044A等位基因的个体患哮喘的风险更大。

Objective To explore the correlation between single nucleotide polymorphisms（SNPs）＋1923C/T in intron3 region and ＋2044G/A in exon4 region of interleukin-13（IL-13）gene and the susceptibility of asthma.Methods A total of 100 asthmatic patients and 100 healthy controls were genotyped using polymerase chain reactionrestriction fragment length polymorphism（PCR-RFLP）methods.The differences of genotype and allele frequency between the two groups were detected and analyzed.Results The genotype frequencies of CC,CT and TT in IL-13＋1923C/T site were 21.0%,41.0% and 38.0% in the asthmatic subjects and 41.0%,44.0% and 15.0% in the controls,respectively.The genotype frequencies of GG,GA and AA in ＋2044G/A site were 51.0%,39.0% and10.0%in the asthmatic subjects and 70.0%,25.0% and 5.0% in the controls,respectively.The distribution of genotype in ＋1923C/T and ＋2044G/A sites of IL-13 gene between the two groups were significantly different（χ^2=16.54,P〈0.01;χ^2=7.71,P 〈0.05,respectively）.Conclusion The SNPs of＋1923C/T and＋2044G/A in IL-13 gene were associated with the susceptibility to asthma.Subjects carrying the ＋1923Tallele or ＋2044Aallele may have an increased risk of asthma.