摘要
目的了解GLCCI1基因的rs37973位点多态性分布,探讨其与吸入型糖皮质激素(ICS)治疗儿童哮喘疗效之间的关系。方法 2014年10月至2016年9月在上海交通大学附属儿童医院住院或门诊被诊断为儿童哮喘的患儿共80例。检测所有受试儿童的GLCCI1基因的rs37973位点。所有哮喘患儿均给予ICS治疗。根据检测结果将哮喘患儿分组观察,记录所有儿童的性别、年龄、住院次数、发作程度、按需使用β2受体激动剂天数、血清Ig E水平、外周血嗜酸细胞计数,以及治疗前和治疗3个月后的呼出气一氧化氮水平(Fe NO)、肺功能、C-ACT评分等临床资料,比较不同基因分型之间的相关临床指标及治疗效果。结果 GLCCI1基因rs37973位点的多态性表现型为AA型27.5%,AG型47.5%,GG型25%,等位基因A和G的分布频率为51.25%和48.75%;哮喘患儿的肺功能、Fe NO和C-ACT评分经ICS治疗后均有明显改善,治疗前后的FEV1、FEV1/VC_(max)、MEF50、MMEF、C-ACT评分差异均有统计学意义。哮喘患儿GLCCI1基因rs37973位点各基因型间的发病程度、血清Ig E水平、血浆EOS计数、住院次数等方面差异无统计学意义,但在β_2受体激动剂天数和是否升级治疗方面各组别之间差异有统计学意义。AA型组使用β2受体激动剂的天数更少,升级治疗的人数比例更低;经ICS治疗后,GLCCI1基因rs37973位点各基因型FEV1治疗前后的差值、MMEF及其治疗前后的差值、C-ACT评分差异(治疗90 d和治疗前)均有统计学意义(P<0.05),AA型组具有更好的改善值。结论中国汉族儿童存在GLCCI1基因的rs37973位点的多态性。GLCCI1基因的rs37973位点的多态性会影响ICS治疗的反应性,该位点的变异可能导致哮喘患儿治疗后的肺功能改善率下降。
AIM To investigate the polymorphism of rs37973 locus in GLCCI1 gene and to explore its rela- tionship with the therapeutic effect of inhaled corticosteroids in children with asthma. METHODS A total of 80 children who were diagnosed as asthma from October 2014 to September 2016 in Shanghai Children＇ s Hospital. All children were tested GLCCI1 gene at rs37973 locus. All patients were treated with inhaled corticosteroids（ICS）. According to the results of the test, children with asthma were observed in different genotypes. The sex ratio, age, hospitalized times and degree of asthma attack of all children and the levels of [32 receptor agonists, serum IgE lev- els, peripheral blood eosinophil counts of the children with asthma, and fractional exhaled nitric oxide （FeNO） , lung function, C-ACT scores before and after 3 months treatment of children with asthma were collected. The fre-queney of alleles in each group was analyzed statistically. The effect of treatment and relevant clinical indicators were compared in different genotypes. RESULTS The polymorphism of rs37973 locus in GLCCI1 gene was 27.5% in AA type, 47.5% in AG type and 25% in GG type. The distribution frequencies of allele A and G were 51.25% and 48.75% respectively. FEV1, FEV1/VC MEF50, MMEF and C-ACT scores were significantly different between 2 groups before and after treatment, and FeNO and C-ACT scores were significantly improved in the asthma group. There was no significant difference in the severity of asthma, the level of serum IgE and the number of plasma EOS counts between different gene type groups of GLCCI1 gene at rs37973, but there was statisti- cally significant difference in the days of using [32 agonists and the proportion of patients upgrading the treatment, which was less in AA type group than that in other group. After ICS treatment, there was statistically significant difference in improvement of FEV1, MMEF and C-ACT scores between different gene types of GLCCI1 rs37973 （P 〈 0.05）. AA group had better improvement value. CONCLUSION The rs37973 locus of the GLCCI1 gene is present in Chinese Han children. The polymorphism of the rs37973 locus of the GLCCI1 gene affects the reactivity of ICS, variance of which may lead to a decrease in lung function improvement in children with asthma.
出处
《中国临床药学杂志》
CAS
2017年第6期353-358,共6页
Chinese Journal of Clinical Pharmacy
基金
上海市儿童医院院级课题(编号2016YQN003)
上海市申康医院发展中心临床科技创新项目(编号SHDC12016215)
