哮喘儿童IgE高亲合力受体β链基因多态性的初步研究

Gene mutation of high affinity immunoglobulin E receptor β-chain in children with asthma

摘要:

目的：探讨IgE高亲合力受体β链基因的I181L,V183L和E237G位点基因多态性与儿童哮喘及血浆总IgE的关系。方法：采用扩增阻滞突变系统聚合酶链式反应(ARMS-PCR)检测技术对50例四川地区哮喘儿童和40例健康对照儿童进行181,183,237三个位点的多态性进行检测,并用双抗体夹心ELISA法检测血清总IgE水平,分析其与儿童哮喘易感性的关系。结果：在哮喘儿童中检测到I181L突变5例、V183L突变2例、E237G突变7例,在对照组中未发现突变子;有突变的哮喘儿童的血清IgE明显高于无突变和正常对照儿童。I181L和E237G突变与儿童哮喘和血清IgE升高有显著相关性。结论：FcεR1β基因I181L和E237G基因多态性是儿童哮喘发病的重要候选基因,与血清总IgE水平升高密切相关。

Abstract:

OBJECTIVE: To investigate the association of the polymorphism of I181L, V183L and E237G in the high affinity immunoglobulin E receptor β-chain (FcεR1β) with the susceptibility of childhood asthma and the serum total immunoglobulin E(IgE) level. METHODS: The coding variants of I181L, V183L and E237G and the serum total IgE level were detected using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and double antibody sandwich ELISA respectively in 50 asthmatic children and 40 normal controls from Sichuan Province. The association of gene mutation with the susceptibility of asthma and the serum total IgE level was analyzed. RESULTS: There were 5 cases of I181L mutation, 2 of V183L mutation, and 7 of E237G mutation in the Asthmatic group. There was no mutation in the Normal control group. The frequency of I181L and E237G mutation in the Asthmatic group were statistically higher than in the Normal control group (P<0.01). The serum total IgE level in the Asthmatic subgroup with I181L mutation (2.837±0.407) or E237G mutation (3.044±0.419) was significantly higher than in the Asthmatic subgroup without gene mutation (2.156±0.638) and the Normal control group (1.348±1.291) (P<0.05 or 0.01). CONCLUSIONS: The polymorphism of FcεR1βI181L and E237G is a susceptible gene of childhood asthma and closely associates with the increased serum total IgE level.