198例儿童哮喘4种基因多态性分布特征及个体化治疗效果分析

目的 探讨4种儿童哮喘相关基因位点的多态性分布特征，分析药物基因检测结果在指导哮喘患儿个体化治疗中的临床疗效，为哮喘患儿的个体化治疗提供新的临床依据。方法 收集396例非急性发作期轻-中度哮喘患儿，选取其中198例作为干预组，采集口腔黏膜脱落细胞，对IL-13基因R110Q（IL-13 R110Q）、IL-4基因-59...

Analysis of the distribution characteristics of four gene polymorphisms and individualized therapeutic effect in 198 children with asthma

Objective To investigate the distribution characteristics of four gene polymorphisms, evaluate the clinical efficacy of drug-gene test results in guiding individualized treatment for pediatric asthma, and provide novel clinical evidence. Methods A total of 396 children with non-acute mild to moderate asthma diagnosed were recruited. Among them, 198 cases were assigned into the intervention group. The exfoliated cells of oral mucosa were collected to detect the polymorphisms of IL-13 gene R110Q （IL-13 R110Q）, IL-4 gene-590C>T （IL-4-590C>T）, β₂ adrenergic receptor gene R16G （ADRB2 R16G） and IgE receptor β chain gene E237G （FcER1B E237G） and asthma drug-genes. The distribution characteristics of asthma gene polymorphisms in children were statistically analyzed. The remaining 198 children with asthma without detection of four gene polymorphisms and asthma drug-genes were allocated into the control group. All children in two groups received inhaled corticosteroids （ICS）. Patients in the intervention group were given with appropriate types of ICS according to the results of asthma drug-gene detection. The patients were followed up for 3 months. Appropriate asthma control scoring tools for children were selected to score and record the questionnaire at the time of enrollment, 1 month and 3 months after treatment, and then the efficacy of individualized medication was statistically analyzed and evaluated. Results The genotype frequencies of AA, AG and GG at IL-13 R110Q locus were 7.1%, 40.4% and 52.5%, respectively. The genotype frequencies of TT, CT and CC at IL-4-590C>T locus were 74.3%, 22.2% and 3.5%, respectively. Genotype frequencies of AA, AG and GG at ADRB2 R16G locus were 44.4%, 38.4% and 17.2%, respectively. The AA, AG and GG genotype frequencies at FcER1B E237G site were 69.2%, 26.8% and 4.0%, respectively. The Test for Respiratory and Asthma Control in Kids （TRACK）, Childhood Asthma Control Test （C-ACT） and Asthma Control Test （ACT） scores in the intervention group were significantly better than those in the control group at 3 months after treatment （all P < 0.05）. Conclusions The polymorphisms of IL-13, IL-4, ADRB2 and FcER1B genes have their own distribution characteristics. Asthma can be improved after individualized treatment. Individualized treatment can be carried out according to the drug-gene testing results.