喘息幼儿哮喘预测指数阳性与IL-13、IL-4、ADRB2、FcER1B基因多态性的关系  

The relationship between positive asthma prediction index and polymorphisms of IL-13,IL-4,ADRB2,and FcER1B genes in asthmatic children

作　　者：何兆辉 陈晓倩[2] 黄葆莹[2] 刘明伟[2] 王桂兰 He Zhaohui;Chen Xiaoqian;Huang Baoying;Liu Mingwei;Wang Guilan(The Second School of Clinical Medicine,Southern Medical University,Guangzhou 510000,China;Department of Pediatrics,Foshan First People′s Hospital,Foshan 528000,China;Department of Pediatrics,Zhongshan Boai Hospital,Zhongshan 528400,China)

机构地区：[1]南方医科大学第二临床医学院,广州510000 [2]佛山市第一人民医院儿科,佛山528000 [3]中山市博爱医院儿科,中山528400

出　　处：《中国医师杂志》2024年第6期886-889,894,共5页Journal of Chinese Physician

基　　金：佛山市卫生健康局医学科研课题(20220025)。

摘　　要：目的探究喘息幼儿哮喘预测指数(API)阳性与白介素(IL)-13、IL-4、β2肾上腺能受体(ADRB2)和Ⅰ型Fcε受体β(FcER1B)基因单核苷酸多态性(SNP)的关系。方法选取2020年1月至2023年8月中山市博爱医院和佛山市第一人民医院收治的<5岁喘息幼儿102例(API阳性51例、API阴性51例)进行前瞻性研究,采集患儿的口腔颊黏膜脱落细胞,利用磁珠法提取基因组DNA,采用基质辅助激光解吸电离-飞行时间质谱仪对4个基因位点(IL-13 rs20541、IL-4 rs2243250、ADRB2 rs1042713、FcER1B rs569108)进行基因分型检测,logistic回归分析评估4个基因位点的SNP分型与喘息患儿API阳性的相关性。结果API阳性组和API阴性组喘息患儿IL-13 rs20541、IL-4 rs2243250、ADRB2 rs1042713、FcER1B rs569108 SNP分型及等位基因分布频率差异有统计学意义(均P<0.05),在API阳性患儿中IL-13 rs20541位点以GG型占比较高、IL-4 rs2243250位点以TT型占比较高、ADRB2 rs1042713位点以AG型占比较高、FcER1B rs569108位点以AA型占比较高;logistic回归分析结果显示IL-13 rs20541 GG型、IL-4 rs2243250 TT型、FcER1B rs569108 AA型与喘息幼儿API阳性发生风险相关(均P<0.05)。结论IL-13、IL-4、FcER1B基因是影响<5岁API阳性喘息幼儿患病的风险基因,临床可通过对这几个基因SNP分型检测来评估API阳性风险。Objective To investigate the relationship between positive asthma prediction index(API)and single nucleotide polymorphisms(SNPs)of interleukin(IL-13),IL-4,β2 adrenergic receptor(ADRB2),and type I Fcεreceptorβ(FcER1B)genes in asthmatic children.Methods A prospective study was conducted on 102 asthmatic children under 5 years old admitted to Zhongshan Boai Hospital and Foshan First People′s Hospital(51 cases were API positive and 51 cases were API negative)from January 2020 to August 2023.Oral and buccal mucosal exfoliated cells were collected from the children,and genomic DNA was extracted using magnetic bead method.Four gene loci(IL-13 rs20541,IL-4 rs2243250,ADRB2 rs1042713,FcER1B rs569108)were genotyped using a matrix assisted laser desorption ionization time-of-flight mass spectrometer.Logistic regression analysis was used to evaluate the correlation between SNP typing at these four gene loci and API positivity in asthmatic children.Results There was a statistically significant difference in the SNP typing and allele distribution frequency of IL-13 rs20541,IL-4 rs2243250,ADRB2 rs1042713,FcER1B rs569108 between the API positive and API negative groups of wheezing children(all P<0.05).Among API positive children,the proportion of IL-13 rs20541 site was higher in GG type,the proportion of IL-4 rs2243250 site was higher in TT type,the proportion of ADRB2 rs1042713 site was higher in AG type,and the proportion of FcER1B rs569108 site was higher in AA type;The results of logistic regression analysis showed that IL-13 rs20541 GG type,IL-4 rs2243250 TT type,FcER1B rs569108 AA type were associated with the risk of API positivity in asthmatic children(all P<0.05).Conclusions IL-13,IL-4,and FcER1B genes are risk genes for the development of API positive wheezing in children under 5 years old.SNP typing of these genes can be used to evaluate the risk of API positivity in clinical practice.

关 键 词：哮喘 白细胞介素13 白细胞介素4 受体 肾上腺素能β2 FcER1B基因 多态性 单核苷酸 

分 类 号：R725.6[医药卫生—儿科]