99例哮喘儿童ORMDL3基因多态性及其与血清IgE水平的关联性

Relationship between ORMDL3 gene polymorphism and serum IgE level in 99 children with asthma

目的探讨血清类黏蛋白1样蛋白3(ORMDL3)基因多态性与儿童哮喘易感性及与血清免疫球蛋白E(IgE)水平的关系。方法选取首诊哮喘的患儿99例为哮喘组,另选取同期健康儿童51例为对照组;采用PCR-Sanger测序对ORMDL3基因rs7216389位点进行基因分型,散射比浊法测定血清IgE水平,比较rs7216389基因型在两组间的分布差异,采用共显性、显性和隐性3种遗传模型分析血清IgE水平。结果rs7216389位点哮喘组TC、TT基因型频率高于对照组(P<0.05),相比CC基因型,TT、TC基因型儿童患哮喘的风险分别增加7.500倍、8.094倍(P<0.05);哮喘组共显性遗传模型TT基因型的IgE水平高于TC基因型(P<0.05);隐性遗传模型TT基因型的IgE水平高于CC+TC基因型(P<0.05);哮喘组显性遗传模型、对照组3种遗传模型IgE比较,差异均无统计学意义(P>0.05)。结论ORMDL3 rs7216389多态性可能与儿童哮喘患病风险有关,TC、TT基因型可能是儿童哮喘患病的风险因子;哮喘儿童rs7216389位点的基因型与血清IgE水平有关。

Objective To investigate the association of orosomucoid 1-like 3(ORMDL3)gene polymorphism with susceptibility to asthma and serum immunoglobulin E(IgE)level in children.Methods A total of 99 children with asthma who were first diagnosed were selected as asthma group,and 51 healthy children during the same period were selected as control group.PCR-Sanger sequencing was applied to genotype rs7216389 locus of ORMDL3 gene.Serum IgE levels were determined by turbidimetric scattering method.The distribution difference of rs7216389 genotypes was compared between two groups.Serum IgE levels were analyzed by co-dominant,dominant and recessive genetic models.Results The frequencies of TC and TT genotypes in rs7216389 were higher in asthma group than that in control group(P<0.05).The risk of asthma in children with TT and TC genotypes was 7.500 times and 8.094 times of that with CC genotype,respectively(both P<0.05).In asthma group,IgE level of TT genotype was higher than that of TC genotype in codominant genetic model(P<0.05),while IgE level of TT genotype was higher than that of CC+TC genotype in recessive genetic model(P<0.05).There was no statistical significance in IgE difference between dominant genetic model in asthma group and three genetic models in control group(P>0.05).Conclusion ORMDL3 rs7216389 polymorphism may be associated with susceptibility to asthma in children.TC and TT genotypes may be risk factors for asthma in children.The genotype of rs7216389 in children with asthma is associated with serum IgE level.