CHI3L1基因单核苷酸多态性与儿童哮喘的关联研究  

Association between polymorphism of CHI3L1 gene single nucleotide and childhood asthma

作　　者：吴静 李竹梅[2] 段朴英 吴贵红 张亚莉 朱晓萍 WU Jing;LI Zhumei;DUAN Puying;WU Guihong;ZHANG Yali;ZHU Xiaoping(Department of Pediatrics,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,Guizhou,China;School of Pediatrics,Guizhou Medical Uiniersity,Guiyang 550004,Guizhou,China)

机构地区：[1]贵州医科大学附属医院儿科,贵州贵阳550004 [2]贵州医科大学儿科学院,贵州贵阳550004

出　　处：《贵州医科大学学报》2025年第1期96-102,共7页Journal of Guizhou Medical University

基　　金：贵州省科技厅社会发展攻关项目(黔科合支撑[2020]4Y124)。

摘　　要：目的探讨几丁质酶3样蛋白1(chitinase 3-like 1,CHI3L1)基因rs4950928、rs883125位点的单核苷酸多态性(single nucleotide polymorphism,SNP)与儿童哮喘易感性、特应性及相关临床指标的关系。方法选取2022年10月—2023年11月就诊于贵州医科大学附属医院儿科的哮喘儿童111例为哮喘组,根据有无过敏性疾病史或过敏原检查阳性分为特应性哮喘组(n=82)和非特应性哮喘组(n=29),另选取同期体检的健康儿童59例为对照组;测定哮喘组儿童外周血总免疫球蛋白E(total immunoglobulin E,tIgE)、呼出气一氧化氮(fractional exhaled nitricoxide,FeNO)及肺功能;采用MassARRAY SNP基因分型技术对两组儿童CHI3L1基因rs4950928、rs883125位点进行基因型检测,Hardy-Weinberg平衡检验基因型频率是否符合遗传平衡。结果rs4950928、rs883125位点哮喘组GC、GG基因型频率、G等位基因频率均高于对照组(P<0.05),rs4950928位点GC基因型患哮喘的风险是CC基因型的2.518倍,G等位基因携带者患哮喘风险分别为C等位基因携带者的2.446倍(P<0.05);rs883125位点GC基因型患哮喘的风险是CC基因型的2.446倍,G等位基因携带者患哮喘风险分别为C等位基因携带者的2.348倍(P<0.05);在非特应性哮喘组和特应性哮喘组之间,rs4950928和rs883125位点的基因型及等位基因分布差异无统计学意义(P>0.05),rs883125位点GC基因型tIgE、FeNO水平高于CC基因型,差异有统计学意义(P<0.05);哮喘儿童rs4950928、rs883125位点不同基因型间肺功能水平差异无统计学意义(P>0.05)。结论CHI3L1基因rs4950928、rs883125是儿童哮喘的易感位点,GC、GG基因型和G等位基因是哮喘的风险因子,rs883125位点SNP与哮喘儿童tIgE、FeNO升高有关、与肺功能水平和哮喘特应性均无关。Objective To investigate the relationship between single nucleotide polymorphisms(SNP)at the rs4950928 and rs883125 loci of the chitinase 3-like protein 1(CHI3L1)gene and childhood asthma susceptibility,childhood asthma allergy and related clinical indicators.Methods A total of 111 children with asthma who attended the pediatrics department of Guizhou Medical University Affiliated Hospital from October 2022 to November 2023 were selected as the asthma group.According to the history of allergic diseases or positive allergen test,patients were divided into atopic asthma group(n=82)and non-atopic asthma group(n=29),and 59 healthy children selected during the same period were selected as the control group.To measure the total immunoglobulin E(tIgE),fractional exhaled nitricoxide(FeNO),and lung function in children with asthma,MassARRAY SNP genotyping technology was used to detect the genotype of the CHI3L1 gene at the rs4950928 and rs883125 loci in both groups of children,and Hardy-Weinberg balance tests were performed to check if the genotype frequencies conform to genetic equilibrium.Results The frequencies of GC and GG genotypes and the frequency of G alleles at the rs4950928 and rs883125 loci in the asthma group were all higher than those in the control group(P<0.05).The risk of asthma for GC genotype at the rs4950928 locus wais 2.518 times that of CC genotype,and the risk of asthma for G allele carriers was 2.446 times that of C allele carriers(P<0.05).The risk of asthma in the GC genotype at rs883125 was 2.446 times that of CC genotype,and the risk of asthma in the G allele carrier was 2.348 times that of C allele carrier(P<0.05).There was no statistical significance in the differences between non-atopic asthma group and atopic asthma group in terms of genotype and allele distribution at rs4950928 and rs883125 loci(P>0.05).The tIgE and FeNO level of GC genotype at rs883125 was significantly higher than that of CC genotypes,and the difference was statistically significant(P<0.05).There was no statistical signifi

关 键 词：儿童哮喘 几丁质酶3样蛋白1基因 单核苷酸多态性 呼出气一氧化氮 

分 类 号：R725.6[医药卫生—儿科]