FCER1A启动子区基因多态性与儿童哮喘

FCER1A promoter gene polymorphism and asthma

目的探讨FCER1A启动子区基因多态性与儿童哮喘和血清总IgE水平的关系。方法基因组DNA提取自286例哮喘儿童和212例健康体检并排除过敏性疾病史儿童血液标本,采用高温连接酶(LDR)反应检测FCER1A启动子区位点rs2427827和rs2251746基因变异,分析两组样本基因型与等位基因分布状况,与GenBank公布的FCER1A基因序列(NT_004487.19GI:224514980)比较。同时,检测病例组样本血清总IgE水平,观察其在不同基因型患者中的分布差异。结果 FC-ER1A启动子区位点rs2427827和rs2251746呈多态性,与儿童哮喘无显著关联(P=0.524,P=0.813),儿童哮喘组rs2251746基因突变与血清总IgE水平关系密切(P=0.041)。结论 rs2251746TC基因型与血清总IgE水平增高显著相关,可能增加患哮喘发生的风险。

Objective To investigate the relationship between FCER1A promoter gene polymorphism and serum total IgE levels of childhood with asthma.Methods Blood samples of 287 children with asthma and 212 healthy donors were collected.Genomic DNA was extracted from all blood samples,and the rs2427827 and rs2251746 mutation on the FCER1A promoter region was detected by PCR-LDR reaction,genotype and allele distribution were analyzed.Meantime,total IgE levels of serum from patients were detected and observed in patients in different genotypes.Results Polymorphisms rs2427827 and rs2251746 were not associated with the occurrence of childhood asthma,but the mutation rs2251746 with asthma patients are closely related with total serum IgE levels (P=0.034) in patients.Conclusions rs2251746 TC genotype were significantly associated with total serum IgE levels,which may increase the severity of asthma.