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  

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

作　　者：刘勇 陆婉秋 Liu Yong;Lu Wanqiu(Guizhou Medical University,Guiyang 550004,China;不详)

机构地区：[1]贵州医科大学,贵阳550004 [2]贵州医科大学附属医院儿科,贵州省儿童医学中心,贵阳550004

出　　处：《新医学》2022年第9期678-682,共5页Journal of New Medicine

摘　　要：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-590C>T(IL-4-590C>T)、β2肾上腺素能受体基因R16G(ADRB2 R16G)和IgE高亲和力受体β链基因E237G(FcER1B E237G)4个基因位点的多态性及哮喘药物基因进行检测,分析儿童哮喘基因多态性的分布特征;余198例未行4个基因位点的多态性及哮喘药物基因检测的哮喘患儿作为对照组。2组哮喘患儿均使用吸入性糖皮质激素(ICS)治疗,其中干预组根据哮喘药物基因检测结果选择相应的ICS类型,随访3个月,分别于入组时、治疗1个月、治疗3个月进行儿童哮喘控制测试评分,评价个体化用药治疗疗效。结果IL-13 R110Q位点AA、AG、GG的基因型频率分别为7.1%、40.4%、52.5%,IL-4-590C>T位点TT、CT、CC的基因型频率分别为74.3%、22.2%、3.5%,ADRB2 R16G的AA、AG、GG基因型频率分别为44.4%、38.4%、17.2%,FcER1B E237G的AA、AG、GG基因型频率分别为69.2%、26.8%、4.0%;治疗3个月干预组儿童呼吸和哮喘控制测试评分、儿童哮喘控制测试评分、哮喘控制测试评分均优于对照组(P均<0.05)。结论IL-13、IL-4、ADRB2及FcER1B基因多态性具有自身的分布特点,患儿在根据药物基因检测结果进行个体化治疗后哮喘可获改善。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 receptorβchain 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

关 键 词：儿童哮喘 基因多态性 白介素-13 白介素-4 Β2肾上腺素能受体 IgE高亲和力受体β链 吸入性糖皮质激素 个体化治疗 

分 类 号：R725.6[医药卫生—儿科]