摘要
目的分析HLA-DQB1基因rs1063355、rs6906021单核苷酸多态性位点(single nucleotide polymorphisms,SNPs)基因多态性与儿童哮喘易感性及糖皮质激素疗效关系。方法采用PCR法及测序仪对我院确诊的106例汉族哮喘患儿及100例汉族健康儿童HLA-DQB1基因rs1063355、rs6906021 SNP位点扩增及基因测序,分析其与发病、吸入用糖皮质激素(inhaled glucocorticoids,ICS)治疗前后气道功能及控制评分间关系。结果(1)HLA-DQB1基因rs1063355位点野生型T/T,变异型T/G及G/G,病例组与对照组间野生型与变异型频率无明显差异(χ^(2)=0.335,P>0.05)。rs6906021位点野生型T/T,变异型T/C、C/C,病例组变异型频率明显高于对照组(χ^(2)=5.293,P<0.05),且T/C、C/C基因型频率均明显高于对照组(χ^(2)=4.148、4.228,P<0.05)。病例组rs6906021位点C等位基因频率明显高于对照组(χ^(2)=4.611,P<0.05);(2)rs1063355、rs6906021 SNPs与儿童哮喘严重程度无明显关系(P>0.05);(3)分析对比入组时、ICS治疗后小气道指标的实测值与预测值比值,发现rs1063355变异型FEF50及FEF75改善率明显高于野生型(t=-1.845、-0.847,P<0.05);(4)两个位点野生型与变异型治疗后哮喘控制评分(C-ACT/ACT)间无明显统计学差异(P>0.05)。结论HLA-DQB1基因rs6906021位点可能是中国东北地区汉族儿童哮喘易感位点;HLA-DQB1 rs1063355位点多态性可能与中国东北地区汉族哮喘儿童ICS治疗后小气道功能改善情况有关。
Objective To analyze the relationship between single nucleotide polymorphisms(SNPs)of rs1063355 and rs6906021 in HLA-DQB1 gene and susceptibility to asthma and efficacy of glucocorticoid in children.Methods HLA-DQB1 gene rs1063355 and rs6906021 SNPS were amplified and sequenced by PCR and sequencers in 106 asthmatic children of Han nationality and 100 healthy children of Han nationality in our hospital.The relationship between the SNPS and the onset,airway function and control score before and after inhaled glucocorticoids(ICS)treatment was analyzed.Results(1)There was no significant difference in the frequency of wild-type T/T variant T/G and G/G at rs1063355 locus of HLA-DQB1 gene between case group and control group(χ^(2)=0.335,P>0.05).The frequency of variant of rs6906021 locus wild-type T/T,variant T/C and C/C in the case group was significantly higher than that in the control group(χ^(2)=5.293,P<0.05),and the frequencies of T/C and C/C genotypes were significantly higher than those in the control group(χ^(2)=4.148,4.228,P<0.05).The frequency of C allele at rs6906021 locus in the case group was significantly higher than that in the control group(χ^(2)=4.611,P<0.05);(2)rs1063355 and rs6906021 SNPs had no significant relationship with the severity of asthma in children(P>0.05);(3)the ratio of measured and predicted values of small airway indexes at the time of enrollment and after ICS treatment was analyzed and compared.It was found that the improvement rates of FEF50 and FEF75 of rs1063355 variant were significantly higher than those of wild-type(t=-1.845,-0.847,P<0.05);(4)there was no significant difference in asthma control score(C-ACT/ACT)between wild-type and variant at the two loci(P>0.05).Conclusion The rs6906021 locus of HLA-DQB1 gene may be the susceptibility locus of asthma in Han children in Northeast China;HLA-DQB1 rs1063355 polymorphism may be associated with the improvement of small airway function after ICS treatment in asthmatic children of Han nationality in northeast China.
作者
郑晓宇
魏兵
廖世峨
张超
刘亚军
朱丽
Zheng Xiaoyu;Wei Bing;Liao Shi-e;Zhang Chao;Liu Yajun;Zhu Li(Postgraduate Training Base of Jinzhou Medical University,the General Hospital of Northern Theater Command;Department of Neonatal Pediatrics,the General Hospital of Northern Theater Command,Shenyang 110016 China)
出处
《锦州医科大学学报》
2022年第6期71-77,共7页
Journal of Jinzhou Medical University
基金
辽宁省民生科技计划项目,项目编号:2021JH2/10300060
沈阳市科技计划项目,项目编号:20-205-4-062。
