调控区多态性与儿童哮喘易感性的关系。
Association between regulatory region polymorphisms and susceptibility to childhood asthma.
机构信息
General Hospital of the Northern Theater of the Chinese People's Liberation Army, Shenyang 110016, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2021 Nov 15;23(11):1132-1140. doi: 10.7499/j.issn.1008-8830.2108054.
OBJECTIVES
To study the association of β2-drenergic receptor () regulatory region single nucleotides polymorphism (SNP)/haplotypes at rs11168070, rs17108803, rs2053044, rs12654778, rs11959427, and rs2895795 loci with childhood asthma.
METHODS
A total of 143 children with asthma who attended the hospital from October 2016 to October 2020 were enrolled as the asthma group, among whom 61 children had mild symptoms (mild group) and 82 children had moderate-to-severe symptoms (moderate-to-severe group). A total of 137 healthy children were enrolled as the control group. Peripheral venous blood samples were collected from the two groups. The SNaPshot SNP technique was used to analyze the SNP and haplotypes of the regulatory region at rs11168070, rs17108803, rs2053044, rs12654778, rs11959427, and rs2895795 loci in all children. The asthma group and the control group were compared in terms of the association of regulatory region SNP and haplotypes at the above six loci with susceptibility to asthma and severity of asthma.
RESULTS
Polymorphisms were observed in the regulation region at the above six loci in both the asthma group and the control group, with significant differences between the two groups in the distribution of genotype and allele frequencies at rs2895795 (-1429T /A), rs2053044(-1023G/A), and rs12654778 (-654G/A) loci (<0.05). Linkage disequilibrium of SNP was observed at the six loci of the regulatory region.The haplotypes of TATGCT, TATGGC, and AGTGCT were associated with susceptibility to childhood asthma, among which TATGCT and TATGGC were risk factors for childhood asthma (=1.792 and 1.946 respectively, <0.05), while AGTGCT was a protective factor (=0.523, <0.05).
CONCLUSIONS
SNP/haplotype of the regulatory region is associated with the susceptibility to childhood asthma. The haplotypes of TATGCT and TATGGC formed by such SNP/haplotype are risk factors for childhood asthma, while AGTGCT is a protective factor.
目的
研究β2-肾上腺素能受体（）调节区单核苷酸多态性（SNP）/单倍型在 rs11168070、rs17108803、rs2053044、rs12654778、rs11959427 和 rs2895795 位点与儿童哮喘的关联。
方法
选取 2016 年 10 月至 2020 年 10 月期间在我院就诊的 143 例哮喘患儿为哮喘组，其中轻度症状 61 例（轻度组），中重度症状 82 例（中重度组）。同期选取 137 例健康儿童作为对照组。采集两组儿童外周静脉血样。采用 SNaPshot SNP 技术分析两组儿童 rs11168070、rs17108803、rs2053044、rs12654778、rs11959427 和 rs2895795 位点的调节区 SNP 和单倍型。比较哮喘组和对照组 rs11168070、rs17108803、rs2053044、rs12654778、rs11959427 和 rs2895795 位点调节区 SNP 及单倍型与哮喘易感性和哮喘严重程度的关系。
结果
哮喘组和对照组 rs11168070、rs17108803、rs2053044、rs12654778、rs11959427 和 rs2895795 位点调节区均存在多态性，两组 rs2895795（-1429T/A）、rs2053044（-1023G/A）和 rs12654778（-654G/A）位点基因型和等位基因频率分布差异有统计学意义（<0.05）。rs11168070、rs17108803、rs2053044、rs12654778、rs11959427 和 rs2895795 六个位点的 SNP 存在连锁不平衡。TATGCT、TATGGC 和 AGTGCT 三种单倍型与儿童哮喘易感性相关，其中 TATGCT 和 TATGGC 为儿童哮喘的危险因素（=1.792 和 1.946，<0.05），AGTGCT 为保护因素（=0.523，<0.05）。
结论
β2-肾上腺素能受体调节区 SNP/单倍型与儿童哮喘易感性相关，该 SNP/单倍型形成的 TATGCT 和 TATGGC 单倍型为儿童哮喘的危险因素，而 AGTGCT 为保护因素。
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