IL-17基因启动子区单核苷酸多态性与儿童哮喘的关系

目的探讨IL-17基因启动子区单核苷酸多态性（SNP）与儿童哮喘及患儿血清总IgE水平之间的关系。方法提取287例哮喘患儿和217例健康儿童外周血基因组DNA,采用PCR-LDR技术检测了IL-17基因启动子区的4个SNPs位点（rs4711998、rs8193036、rs3819024和rs2275913）,与GenBank公布的IL-17基因序列（NT₀07952.15 GI:224514668）比较,分析其在两组儿童中的基因型及等位基因频率的分布,以及哮喘患儿血清总IgE水平及其在不同基因型中的差异。结果两组rs4711998位点基因型分布差异有统计学意义（P=0.03）,哮喘组GG纯合子基因频率为9.6%,明显高于健康对照儿童组（4.1%）;rs8193036、rs3819024、rs2275913三个SNP位点的基因型分布在两组间差异无统计学意义。哮喘组血清总IgE水平在4个SNP位点基因型间的分布差异均无统计学意义。结论 IL-17基因启动子区SNP rs4711998可能是儿童哮喘易感位点,其中rs4711998 GG纯合子基因型与哮喘发病密切相关。

Association of single nucleotide polymorphism of IL-17 gene promoter with childhood asthma

ObjectiveTo investigate the association of IL-17 gene promoter single nucleotide polymorphism(SNP) with childhood asthma and total serum IgE level in children. MethodsThe genomic DNA was extracted from the peripheral blood of 287 asthmatic children and 217 healthy children. Four SNPs (rs4711998, rs8193036, rs3819024 and rs2275913) in the IL-17 gene promoter were detected by PCR-LDR (polymerase chain reaction-ligation detection reaction), and the results were compared with those in GenBank (IL-17, NT_007952.15 GI: 224514668). The genotype and allele frequencies were analyzed in asthmatic children with different total serum IgE levels. ResultsNotable diversity was found in SNP rs4711998 between the asthmatic and control groups (P=0.03), with the frequency of genotype GG in the asthmatic group being significantly higher than that in the control group (9.6% vs 4.1%). There was no significant diversity in other three SNPs (rs8193036, rs3819024 and rs2275913) between the two groups.The four SNP genotypes were not associated with the total serum IgE levels in asthma patients. ConclusionThe SNP rs4711998 may be a susceptibility gene for asthma in children,and rs4711998 GG genotype is closely associated with childhood asthma.