哮喘易感基因ORMDL3在婴幼儿喘息中的多态性研究  

Polymorphisms of asthma susceptibility gene ORMDL3 in infantile wheezing

作　　者：侯沛君 滑超[1] 王金荣[1] 谷亚星 郭春艳[1] 孙立锋[1] 刘奉琴[1] 

机构地区：[1]山东大学附属省立医院小儿呼吸科,济南250021 [2]山东中医药大学第二临床医学院,济南250001

出　　处：《中华实用儿科临床杂志》2017年第9期660-663,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：山东省医药卫生科技发展计划项目（2013WS0106）;山东省重点研发计划项目（2015GSF118036）

摘　　要：目的探讨哮喘易感基因ORMDL3在婴幼儿喘息中的多态性，为早期诊断支气管哮喘（哮喘）提供理论依据。方法将150例喘息婴幼儿分为哮喘预测指数（API）阳性组（80例）和API阴性组（70例）。通过TaqMan探针法对ORMDL3单核苷酸多态性（SNPs）位点rs4794820、rs7216389基因型进行分析，比较上述2个位点的基因型在API阳性组和阴性组喘息患儿间的分布差异，并分析基因型分布与潮气肺功能、呼出气一氧化氮（FeNO）水平、外周血嗜酸性粒细胞百分数（EOS%）、血清免疫球蛋白E（总IgE）水平的相关性。结果1.API阳性组以rs4794820 AG基因型以及rs7216389 TC基因型的分布频率最高，且AG、TC基因型在API阳性组的分布频率均明显高于阴性组，差异均有统计学意义（分别为58.75%比31.42%、56.25%比32.86%，均P〈0.01）；API阴性组以rs4794820 GG基因型以及rs7216389 TT基因型分布频率最高，且GG、TT基因型在API阴性组的分布频率均明显高于阳性组，差异均有统计学意义（分别为58.57%比30.00%、57.14%比31.25%，均P〈0.01）。2.API阳性组患儿的达峰时间比（TPTEF/TE）、达峰容积比（VPEF/VE）均低于API阴性组（分别为16.87±5.31比20.12±5.23、20.87±5.92比25.56±6.77），FeNO浓度高于阴性组[（22.44±9.77） ppb比（13.23±7.90） ppb]，差异均有统计学意义（t＝－3.776、－4.490、6.377，均P〈0.01）。3.API阳性组同时表达AG/TC基因型患儿（44例）的TPTEF/TE和VPEF/VE值均低于同时表达GG/TT基因型的患儿（23例）（分别为14.55±4.83比19.91±4.17、18.85±4.26比25.20±7.06），差异均有统计学意义（t＝－4.727、－3.976，均P〈0.01）；FeNO水平、EOS%、总IgE水平均高于同时表达GG/TT基因型的患儿[分别为（25.02±8.77） ppb比（18.39±6.56） ppb、7.16±2.62比5.50±1.34、（366 727±275 533） IU/L比（166 826±62 865） IU/L]，差异均有统计学意义（t＝3.484、3.409、4.589，�Objective To discuss the polymorphisms of asthma susceptibility gene ORMDL3 in infantile wheezing, in order to provide a theoretical basis for early diagnosis of asthma.Methods One hundred and fifty whee-zing infants were recruited and divided into 2 groups as asthma predictive index（API） positive group（n=80） and ne-gative group（n=70）. Taqman probe was applied to detect the genotypes of 2 single nucleotide polymorphisms （SNPs） in childhood asthma susceptibility gene ORMDL3, which were rs4794820 and rs7216389.The genotype distributions were analyzed and compared between 2 groups, and the correlations among genotype distribution and tidal breath pulmonary function, fractional exhaled nitric oxide （FeNO） concentration, percentage of eosinophils （EOS%）, serum immune globulin E （total IgE） levels respectively were also analyzed, respectively.Results （1） The frequencies of rs4794820 AG and rs7216389 TC heterozygotes in the API positive group were the highest, which were significantly higher than those in the negative group（58.75% vs.31.42%, 56.25% vs.32.86% respectively, all P〈0.01）. The frequencies of GG and TT homozygotes in the API negative group were the highest, which were significantly higher than those in the positive group （58.57% vs.30.00%, 57.14% vs.31.25% respectively, all P〈0.01）. （2）The time to reach the peak expiratory flow in tidal breathing over the total expiratory time （TPTEF/TE） and the volume to reach the peak expiratory flow in tidal breathing over the total expiratory volume （VPEF/VE） of the infants in the API positive group were less than those in the API negative group（16.87±5.31 vs.20.12±5.23, 20.87±5.92 vs.25.56±6.77, respectively）, and the FeNO concentration was higher than that in the API negative group[（22.44±9.77） ppb vs.（13.23±7.90） ppb], and the differences were significant（t=-3.776, -4.490, 6.377, respectively; all P〈0.01）. （3）In the API positive group, the TPTEF/TE and VPEF/VE of the infants who express

关 键 词：婴幼儿喘息 支气管哮喘 基因多态性 ORMDL3 哮喘预测指数 

分 类 号：R725.6[医药卫生—儿科]