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

作　　者：吴彩云 凌娟 王晓丽 WU Caiyun;LING Juan;WANG Xiaoli(Department of Pediatrics,The Affiliated Taizhou Second People's Hospital of Yangzhou University,Taizhou Second People's Hospital,Taizhou,Jiangsu 225500,China)

机构地区：[1]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

出　　处：《安徽医药》2024年第6期1226-1231,共6页Anhui Medical and Pharmaceutical Journal

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。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 Hospital from May 2020 to October 2021 were prospectively selected as the susceptible group.All patients received glucocorticoid inhalation therapy and were divided into a good efficacy group and a poor efficacy group according to their treatment efficacy.The 48 children who underwent 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 allele frequencies were calculated.The relationship between polymorphisms of gene loci and susceptibility to childhood bronchial asthma was analyzed 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 successfully matched 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 gene rs12278256 locus and the A allele frequency in the susceptible group and the control group were statistically significant(P<0.05).Multivariate 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 bron

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 

分 类 号：R725.6[医药卫生—儿科]