Single nucleotide polymorphisms of NR3C1 gene in childhood asthma and its influence on the efficacy of glucocorticoids / 国际儿科学杂志

ABSTRACT

Objective:To investigate the correlation between single nucleotide polymorphism of corticosteroids receptor gene(NR3C1)and children with asthma and to analyze the efficacy of inhaled corticosteroid(ICS)treatment.Methods:The study included a control group(100 healthy children)who participated in the physical examination and an asthma group(101 children with bronchial asthma)who were hospitalized in the General Hospital of the Northern Theater Command from October 2018 to October 2020.Genomic DNA was extracted from peripheral blood samples of all enrolled subjects and then the polymorphism of the glucocorticoid receptor gene locus of NR3C1 was analyzed using SNaPshot SNP gene detection technology.The comparisons of allele frequency in rs41423247、rs7701443 between two groups were performed and the treatment effects of ICS in the asthma group were evaluated at the 12th week of treatment.Results:The frequencies of GG, GC, and CC genotypes of rs41423247 locus of NR3C1 were 75.2%, 21.8%, and 3.0% in the asthma group and 72.0%, 24.0%, and 4.0% in the control group, respectively, and there were no statistically significant differences between the two groups( χ2=0.333, P>0.05). The frequencies of GG, GA, and AA genotypes of rs7701443 locus of NR3C1 were 45.5%, 39.6%, and 14.9% in the asthma group and 56.0%, 31.0%, and 13.0% in the control group, respectively, and there were no statistically significant differences between the two groups( χ2=2.259, P>0.05). After ICS treatment, the C-ACT/ACT scores were not significantly improved in children with CC genotypes at rs41423247 locus( P>0.05), while children with GG and GC genotypes were obviously improved( P<0.05). The scores of C-ACT/ACT showed obvious differences among three genotypes of rs41423247 locus after treatment with ICS( P<0.05). The C-ACT/ACT scores of all were significantly improved in children with GG, GA, or AA genotypes at rs7701443 locus after treatment with ICS( P<0.05), while there was no significant difference among those three genotypes( P>0.05). Significantly improved pulmonary function following ICS treatment in children with asthma was observed in GG and GC genotypes of rs41423247 locus of NR3C1( P<0.05), while only MMEF was improved in CC genotype( P<0.05). Meanwhile, those pulmonary function indexes were improved in all genotypes of rs7701443 after treatment with ICS( P<0.05). Conclusion:Both rs41423247 and rs7701443 locus at NR3C1 gene have polymorphisms.But there were no significant differences in the polymorphism of rs41423247 and rs7701443 locus of NR3C1 between the asthma group and the control group.Different genotype frequencies of rs41423247 and rs7701443 at NR3C1 locus in children with asthma have different effects on ICS treatment.