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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.
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Objective:To investigate the relationship between rs2075748 and rs542269 single nucleotide polymorphisms of cholinergic muscarinic receptor 1 (CHRM1)gene and susceptibility of childhood asthma, as well as the differences of pulmonary function and serum acetylcholine(Ach)levels among different genotypes.Methods:A total of 156 asthmatic children who were treated in the outpatient or hospitalized in the General Hospital of the Northern Theater Command from September 2018 to September 2020 were selected as the case group, while 134 non-asthmatic children who had a healthy physical examination were selected as the control group.The SNaPshot SNP typing technique was used to analyze the genotype of the CHRM1 gene rs2075748 and rs542269 of the study subjects.Serum Ach level was detected by double antibody sandwich method, and the pulmonary function of the case group was detected.Results:After analyzing the CHRM1 gene polymorphism, it was found that the CC, CT, and TT genotype frequencies at rs2075748 were 65.4%, 28.8%, 5.8% in the case group, and 62.8%, 32.4%, 4.8% in the control group.The C and T allele frequencies were 79.8% and 20.2% in the case group, 74.3% and 25.7% in the control group.There were no significant difference in the genotype and allele frequency distribution between the two group ( χ2=2.688, 2.530, both P>0.05), and there were no significant difference in the recessive and dominant modes between the two groups ( χ2=0.338, 2.686, both P>0.05). The TT and CT genotype frequencies at rs542269 locus were 72.4% and 27.6% in the case group, 62.7% and 37.3% in the control group.The T and C allele frequency were 86.2% and 13.8% in the case group, 81.3% and 18.7% in the control group.The genotype and allele frequency distribution were not obvious different between the two group ( χ2=3.145, 2.544, both P>0.05). The risk of asthma with variant CT and TT at rs2075748 locus of CHRM1 gene were not statistically different from that of wild-type CC (both P>0.05), and the risk of asthma with variant CT at rs542269 locus was no different from that of wild-type TT ( P>0.05). The difference in FEF50% Pred and FEF75% Pred of different genotypes at rs2075748 were statistically significant( F=3.118, 4.808, both P<0.05), wild-type CC was lower than variant CT(both P<0.05). There were no statistically significant difference in pulmonary function among different genotypes at rs542269 (both P>0.05). There was significant difference in serum Ach level between different genotypes of rs2075748 ( F=4.716, P<0.05), variant CT was lower than wild-type CC ( P<0.05), variant TT was lower than wild-type CC ( P<0.05), while no significant difference was find between variant CT and TT ( P>0.05). There was no significant difference in serum Ach level between different genotypes of rs542269 ( P>0.05). Conclusion:The rs2075748 locus of CHRM1 gene is not susceptible to asthma, but it may be related to the small airway function of asthmatic children, besides there are differences in serum Ach levels with different genotypes, and the variant serum Ach level is lower.The rs542269 locus is not a susceptibility site for asthma, and there are no difference in pulmonary function and serum Ach levels in asthmatic children with different genotypes.
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Objective To detect the expression of β-catenin in the tissues of primary central nervous system lymphoma (PCNSL), and to discuss its function in PCNSL.Methods The paraffin embedded tissues from 10 patients diagnosed as PCNSL from October 2010 to April 2012 were collected as the experimental group.The paraffin embedded tissues from 10 patients with lymphadenitis were collected as the control group.Quantitative real-time PCR and immunohistochemical method were used to detect the expression of β-catenin in these tissues, and the relationships between β-catenin and clinical data were analyzed.Results Immunohistochemistry results showed that β-catenin protein was localized in the cytoplasm and (or) nucleus.Among 10 PCNSL patients, β-catenin protein was positive in 4 patients, while it was no positive in all of 10 lymphadenitis patients, with the significant differences between both groups (P ＜ 0.05).The β-catenin gene relative expression level was 4.70±0.57 and 1.00±0.27 in the experimental group and the control group, respectively.β-catenin expression was no correlation to age, PS score, cerebrospinal fluid protein level and serum lactate dehydrogenase level of patients with PCNSL.Conclusions Whether in mRNA level or in protein level, β-catenin expression is always high in PCNSL tissues, and its protein is expressed in the cytoplasm, however, this phenomenon was not observed in the tissue of lymphadenitis.