段朴英,熊妍,蒙文娟,李波,杨俊,吴静,朱晓萍
DUAN Puying,XIONG Yan,MENG Wenjuan,LI Bo,YANG Jun,WU Jing,ZHU Xiaoping

• 1:贵州医科大学附属医院儿科呼吸
• 2:贵州医科大学儿科学院
• 3:六枝特区人民医院儿科

摘要(Abstract)：

目的 研究血清类黏蛋白1样蛋白3(ORMDL3)基因rs7216389、rs12603332位点单核苷酸多态性(SNP)及该基因-环境交互作用与儿童哮喘的关系。方法 选取102例哮喘儿童为哮喘组、54例健康儿童为对照组，分别比较两组儿童ORMDL3基因rs7216389、rs12603332位点的等位基因及基因型频率差异；采用logistic回归分析ORMDL3基因与儿童哮喘患病风险的关系，Haploview软件进行连锁不平衡及单倍型分析，广义多因子降维法(GMDR)分析ORMDL3基因与环境的交互作用。结果 ORMDL3基因rs7216389位点哮喘组TT、TC基因型频率均高于对照组(P<0.05),等位基因频率在两组间分布差异无统计学意义(P>0.05),rs12603332等位基因及基因型频率在两组分布均差异无统计学意义(P>0.05);rs7216389位点TT和TC基因型儿童哮喘患病风险分别为CC基因型儿童的7.000倍和8.312倍(P<0.05);rs12603332位点AG基因型儿童哮喘患病风险为AA基因型儿童的4.266倍(P<0.05);两位点显示强连锁不平衡(D=1),单倍型TG、CA、TA在两组间分布差异均无统计学意义(P>0.05);GMDR显示两位点存在交互作用(P<0.05),rs7216389位点与湿疹史、家族过敏史、特应性存在交互作用(P<0.05)。结论 ORMDL3基因rs7216389、rs12603332位点基因多态性与儿童哮喘患病风险有关，两位点间及rs7216389位点与湿疹史、家族过敏史、特应性具有交互作用。
Objective To investigate the single nucleotide polymorphisms(SNP) at rs7216389 and rs12603332 of serum orosomueo id 1-like protein 3(ORMDL3) gene and the relationship between this gene-environment interaction and childhood asthma. Methods A total of 102 children with asthma were chosen as asthma group, and 54 healthy children as control group. Alleles and genotype frequency differences of ORMDL3 gene rs7216389 and rs12603332 were compared between the two groups; logistic regression was used to analyze the relationship between ORMDL3 gene and the risk of childhood asthma; Haploview software was used to perform linkage disequilibrium and haplotype analysis. Generalized multifactor dimensionality reduction(GMDR) analyzed the interactions between ORMDL3 genes and the environment. Results The TT and TC genotype frequencies of ORMDL3 gene rs7216389 asthma group were higher than those of control group(P<0.05), there was no difference in allele frequency distribution between the two groups(P>0.05), there was no difference in allele and genotype frequency distribution between the two groups at rs12603332(P>0.05). The risk of asthma in TT and TC genotype of rs7216389 was 7.000 times and 8.312 times greater than that of in CC genotype children, respectively(P<0.05). The risk of asthma in rs12603332 AG genotype children was 4.266 times greater than that of AA genotype children(P<0.05). The two loci showed strong linkage disequilibrium(D=1), and the distribution of haplotype TG, CA and TA were not statistically different between the two groups(P >0.05). GMDR showed interaction between the two loci(P<0.05), rs7216389 locus and eczema history, family history of allergy, atopic interaction(P<0.05). Conclusion rs7216389 and rs12603332 polymorphisms of ORMDL3 gene are associated with the risk of asthma in children, the interaction between the two loci and rs7216389 loci is associated with eczema history, family history of allergy, and atopic activity.

关键词(KeyWords)： 血清类黏蛋白1样蛋白3;哮喘;单核苷酸多态性;交互作用;儿童
orosomueo id 1-like protein 3;asthma;single nucleotide polymorphism;interaction;children

Abstract:

Keywords:

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

作者(Author): 段朴英,熊妍,蒙文娟,李波,杨俊,吴静,朱晓萍
DUAN Puying,XIONG Yan,MENG Wenjuan,LI Bo,YANG Jun,WU Jing,ZHU Xiaoping

DOI: 10.19367/j.cnki.2096-8388.2024.02.021

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