Yang Ai-Mei, Huang Rong, Jin Shi-Jie
Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, 410008 China.
Zhongguo Dang Dai Er Ke Za Zhi. 2016 Apr;18(4):324-8. doi: 10.7499/j.issn.1008-8830.2016.04.009.
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.
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.
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).
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 be associated with airway remodeling.
研究中国湖南地区哮喘儿童的ORMDL3基因多态性，并确定ORMDL3基因多态性与血清骨桥蛋白（OPN）及转化生长因子-β1（TGF-β1）水平之间的关系。
采集中国湖南地区哮喘儿童（n = 98；哮喘组）和非哮喘儿童（n = 30；对照组）的外周血样本。哮喘组再分为特应性（n = 62）和非特应性（n = 36）亚组。进行单核苷酸多态性（SNP）分析，并检测血清OPN和TGF-β1水平。
哮喘组与对照组之间ORMDL3基因rs7216389的基因型和等位基因频率无显著差异。哮喘组血清OPN水平显著高于对照组（P < 0.05）。特应性和非特应性亚组的血清OPN水平均高于对照组（P < 0.05）。特应性亚组血清TGF-β1水平显著高于对照组（P < 0.05）。不同基因型哮喘儿童的血清OPN和TGF-β1水平无显著差异。哮喘组及其两个亚组中血清OPN和TGF-β1水平呈正线性相关（r = 0.620；P < 0.01）（两个亚组r分别为0.734、0.649；P < 0.01）。
在中国湖南地区儿童中，ORMDL3基因的SNP（rs7216389）与哮喘易感性无关。OPN和TGF-β1可能参与哮喘的发生发展，且二者呈正线性相关。ORMDL3基因的SNP（rs7216389）不影响OPN和TGF-β1的表达，提示其可能与气道重塑无关。
