湖南省98例哮喘儿童ORMDL3基因多态性分析及与OPN、TGF-β1水平相关性探讨  

ORMDL3 polymorphisms and their relationship with OPN and TGF-β1 levels in children with asthma in Hunan, China: an analysis of 98 cases

作　　者：阳爱梅[1] 黄榕[1] 金世杰[2] 

机构地区：[1]中南大学湘雅医院儿科,湖南长沙410008 [2]湖南省儿童医院呼吸科,湖南长沙410007

出　　处：《中国当代儿科杂志》2016年第4期324-328,共5页Chinese Journal of Contemporary Pediatrics

摘　　要：目的研究湖南省哮喘儿童ORMDL3基因多态性,并探讨其与骨桥蛋白(OPN)及转化生长因子β1(TGF-β1)的相关性。方法收集湖南省的哮喘患儿(n=98,哮喘组)及非哮喘儿童(n=30,对照组)外周血,其中哮喘组又分为伴特应质(n=62)和无特应质亚组(n=36),进行ORMDL3基因单核苷酸多态性分析并检测OPN和TGF-β1含量。结果哮喘组与对照组ORMDL3基因rs7216389位点的基因型及等位基因构成比差异无统计学意义。哮喘组OPN含量高于对照组(P<0.05),其中伴特应质及无特应质亚组的OPN含量也明显高于对照组(P<0.05);伴特应质哮喘组血清TGF-β1含量高于对照组(P<0.05)。不同基因型哮喘患儿的OPN及TGF-β1含量差异均无统计学意义。哮喘组及其两个亚组的OPN与TGF-β1含量均呈直线正相关(r=0.620,0.734,0.649,P<0.01)。结论 ORMDL3基因rs7216389单核苷酸多态性与湖南省哮喘儿童无相关性;OPN、TGF-β1参与了哮喘的发生发展过程;ORMDL3基因rs7216389位点并不影响OPN、TGF-β1的表达,可能与气道重塑无明显相关性。Objective To investigate ORMDL3 polymorphisms in children with asthma in Hunan, China, and to determine the relationship between ORMDL3 polymorphisms and serum osteopontin（OPN） and transforming growth factor-β1（TGF-β1） levels. Methods Peripheral blood samples were collected in children with asthma（n=98; astma group） or without asthma（n=30; control group） from Hunan, China. The asthma group was subdivided into atopic（n=62） and non-atopic（n=36） subgroups. Single nucleotide polymorphism（SNP） analysis was performed, and serum OPN and TGF-β1 levels were measured. Results There were no significant differences in genotype and allele frequencies of rs7216389 of the ORMDL3 gene between the asthma and control groups. The serum level of OPN in the asthma group was significantly higher than in the control group（P〈0.05）. Both the atopic and non-atopic subgroups showed increased serum levels of OPN compared with the control group（P〈0.05）. The serum level of TGF-β1 in the atopic subgroup was significantly higher than in the control group（P〈0.05）. The serum levels of OPN and TGF-β1 showed no significant differences in asthmatic children with different genotypes. The serum levels of OPN and TGF-β1 were in a positive linear correlation in the asthma group（r=0.620; P〈0.01） and its two subgroups（r=0.734, 0.649 respectively; P〈0.01）. Conclusions In children from Hunan, China, the SNP（rs7216389） of ORMDL3 is not related to asthma susceptibility. OPN and TGF-β1 may be involved in the development of asthma, and they are in a positive linear correlation. The SNP（rs7216389） of ORMDL3 does not influence the expression of OPN and TGF-β1, suggesting that it may not beassociated with airway remodeling.

关 键 词：哮喘 ORMDL3基因 特应质 单核苷酸多态性 骨桥蛋白 转化生长因子β1 儿童 

分 类 号：R725.6[医药卫生—儿科]