【摘要】 目的验证4个基因单核苷酸多态性(SNP)位点ADRB2 rs1042713(R16G)、FcER1B rs569108(E237G)、IL13 rs20541(R110Q)和IL4 rs2243250(-590C>T)所构成的哮喘基因预测模型与哮喘预测指数(API)和特应性的相关性。方法采用多中心实证研究方法,随机选取2019年6月至2020年11月来自国内10余家医疗机构专科门诊的1490例学龄前喘息患儿作为研究对象。通过基质辅助激光解吸电离飞行时间质谱法对患儿进行上述4个SNP位点基因分型,并根据基因分型结果将哮喘划分为高危型和低危型。收集喘息患儿的临床病史,并通过ImmunoCAP法检测血清特异性IgE作为特应性指标,分析哮喘高、低危组与哮喘预测指数(API)和特应性的相关性。结果 1490例中,680例为哮喘高危型,810例为低危型。高危型患儿无论严格还是宽松标准API阳性率均显著高于低危型(P<0.001)。哮喘高危型患儿严格标准API阳性的风险是哮喘低危型患儿的5.33倍,而宽松标准API阳性的风险则是哮喘低危型患儿的2.63倍。此外,哮喘高危型患者中特应性阳性所占比为73.43%,而低危型患儿特应性阳性率60.80%,前者显著高于后者(P<0.01)。哮喘高危型患者特应性阳性的风险是低危型患儿的1.78倍。结论 ADRB2 rs1042713(R16G)、FcER1B rs569108(E237G)、IL13 rs20541(R110Q)和IL4 rs2243250(-590C>T)构成的哮喘预测模型与API和特应性具有相关性。该模型筛选出的高危型可作为API和特应性阳性的重要相关因素,为学龄前儿童哮喘发病风险预测提供理论依据。更多还原

【Abstract】 Objective To examine the associations of 4-locus gene prediction model of asthma,including ADRB2 rs1042713(R16G),FcER1B rs569108(E237 G),IL13 rs20541(R110 Q) and IL4 rs2243250(-590 C> T),with asthma predictive index(API) and atopy.Methods In this study,1490 preschool children with wheezing were randomly recruited from Shanghai Children’ s Medical Center and other 10 domestic medical institutions from June 2019 to November 2020 using a multicenter empirical research method.The children were genotyped for the above four single nucleotide polymorphisms(SNPs) by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry,and then divided into high or low risk group based on the genotypes.The clinical history of the preschool children with wheezing was collected,and serum specific IgE was detected by ImmunoCAP assays,which was used as atopic index to analyze the association of API and atopy with the high-risk and lowrisk groups of asthma.Results Of the 1490 children,680 were at high risk for asthma and 810 were at low risk.For both stringent and loose API,the positive rate was significantly higher in high-risk patients than in low-risk patients(stringent API,OR=5.33,P <0.001;loose API,OR=2.63,P <0.001).In addition,positive atopy accounted for73.43% in high-risk patients,and it was 60.80% in low-risk patients;the risk of positive atopy was 1.78 times higher in patients at high risk than that at low risk for asthma(P <0.01).Conclusions The results indicates that the 4-locus asthma prediction model consisting of IL13 rs20541,IL4 rs2243250,ADRB2 rs1042713,and FcER1B rs569108 is associated with the API and atopy,which may provide an important theoretical basis for predicting asthma and atopy in preschool children.更多还原