文章摘要
吴彩云,凌娟,王晓丽.钙黏蛋白家族成员 3及 11号染色体开放阅读框 30基因多态性与支气管哮喘病儿易感性及糖皮质激素疗效的研究[J].安徽医药,2024,28(6):1226-1231.
钙黏蛋白家族成员 3及 11号染色体开放阅读框 30基因多态性与支气管哮喘病儿易感性及糖皮质激素疗效的研究
Association of CDHR3 and C11orf30 gene polymorphisms with susceptibility and glucocorticoid efficacy in children with bronchial asthma
  
DOI:10.3969/j.issn.1009-6469.2024.06.036
中文关键词: 哮喘  钙黏蛋白家族成员 3  11号染色体开放阅读框 30  基因多态性  糖皮质激素  倾向性评分匹配
英文关键词: Asthma  Cadherin family member 3  Chromosome 11 open reading frame 30  Gene polymorphism  Glucocorti coids  Propensity score matching
基金项目:
作者单位E-mail
吴彩云 扬州大学附属泰州第二人民医院、泰州市第二人民医院儿科江苏泰州 225500  
凌娟 扬州大学附属泰州第二人民医院、泰州市第二人民医院儿科江苏泰州 225500  
王晓丽 扬州大学附属泰州第二人民医院、泰州市第二人民医院儿科江苏泰州 225500 wxlshfz@126.com 
摘要点击次数: 78
全文下载次数: 61
中文摘要:
      目的探讨钙黏蛋白家族成员 3(CDHR3)及 11号染色体开放阅读框 30(C11orf30,EMSY)基因多态性与支气管哮喘病儿易感性及糖皮质激素疗效。方法前瞻性选取 2020年 5月至 2021年 10月于泰州市第二人民医院就诊的支气管哮喘病儿 132例作为易感组。均接受糖皮质激素吸入治疗,并根据疗效分为疗效良好组和疗效不良组。选取同期体检的 48例儿童作为对照组,采用倾向性匹配方法对易感组和对照组性别、年龄等基线资料进行匹配;采用 PCR检测 CDHR3及 EMSY基因的单核苷酸多态性,计算其基因型频率和等位基因频率,基因位点的多态性与儿童支气管哮喘易感风险间的关系采用多因素 logistic回归分析。对比疗效良好组和疗效不良组不同基因型分布。结果易感组和对照组经倾向性评分匹配后有 36组配对成功(每组 36例),匹配后基线资料对比差异无统计学意义( P>0.05)。匹配后易感组和对照组 CDHR3基因 rs6967330位点、 EMSY基因 rs12278256位点基因型频率及 A等位基因频率比较差异有统计学意义( P<0.05)。多因素 logistic回归分析显示: EMSY基因 rs12278256位点 AA基因型[ OR=9.91,95%CI:(1.02,96.65)]、 CDHR3基因 rs6967330位点 AA基因型[ OR=10.09,95%CI:(1.08,94.02)]是支气管哮喘易感的危险因素(均 P<0.05)。治疗 12周后, 24例( 66.67%)为疗效良好组,其余 12例( 33.33%)归为疗效不佳组,两组 CDHR3基因 rs6967330位点基因型分布对比差异无统计学意义( P>0.05);两组 EMSY基因 rs12278256位点基因型分布对比差异有统计学意义( P<0.05)其中疗效良好组 AA基因型分布频率[ 37.50%(9/24)]明显高于疗效不良组[ 0(0/12)](P<0.05)。结论 CDHR3基因 rs3847076位,点以及 EMSY基因 rs12278256位点与儿童支气管哮喘易感有关, EMSY基因 rs12278256位点与糖皮质激素治疗疗效相关。
英文摘要:
      Objective To investigate the associations of polymorphisms in the calcineurin family member 3 (CDHR3) and chromosome 11 open reading frame 30 (C11orf30, EMSY) genes with susceptibility to bronchial asthma and the efficacy of glucocorticoids in children with bronchial asthma.Methods A total of 132 children with bronchial asthma treated at Taizhou Second People's Hospitalfrom May 2020 to October 2021 were prospectively selected as the susceptible group. All patients received glucocorticoid inhalationtherapy and were divided into a good efficacy group and a poor efficacy group according to their treatment efficacy. The 48 children whounderwent physical examination during the same period were selected as the control group and the baseline data, such as sex and age,of the susceptible group and the control group were matched by the propensity score matching method. Single nucleotide polymorphisms of the CDHR3 and EMSY genes were detected by polymerase chain reaction (PCR), and their genotype frequencies and allelefrequencies were calculated. The relationship between polymorphisms of gene loci and susceptibility to childhood bronchial asthma wasanalyzed by multivariate logistic regression. The distributions of different genotypes in the good-efficacy group and the poor efficacy group were compared. Results After propensity score matching, the susceptible group and the control group were successfullymatched in 36 groups (36 patients in each group), and there was no significant difference in the baseline data after matching (P>0.05).After matching, the differences between the genotype frequencies of the CDHR3 gene rs6967330 locus and the EMSY geners12278256 locus and the A allele frequency in the susceptible group and the control group were statistically significant (P<0.05). Mul tivariate logistic regression analysis revealed that the AA genotype at the rs12278256 locus of the EMSY gene [OR=9.91, 95% CI:(1.02, 96.65)], and the AA genotype at the rs6967330 locus of the CDHR3 gene [OR=10.09, 95% CI: (1.08, 94.02)] were risk factors for bronchial asthma (all P<0.05). After 12 weeks of treatment, 24 patients (66.67%) were categorized into the good-efficacy group, and the remaining 12 patients (33.33%) were categorized into the poor-efficacy group. The difference in the genotype distribution of thers6967330 locus of the CDHR3 gene between the two groups was not statistically significant (P>0.05), and the difference in the genotype distribution of the rs12278256 locus of the EMSY gene between the two groups was statistically significant (P<0.05); the frequency of the AA genotype distribution in the good-efficacy group [37.50% (9/24)] was significantly greater than that in the poor-efficacy group [0 (0/12)].Conclusion The rs3847076 locus of the CDHR3 gene as well as the rs12278256 locus of the EMSY gene were associatedwith susceptibility to bronchial asthma in children, and the rs12278256 locus of the EMSY gene was correlated with the efficacy of glucocorticoid therapy.
查看全文   查看/发表评论  下载PDF阅读器
关闭

分享按钮