ADRB2基因调控区多态性与儿童哮喘易感性的相关性研究 Association between ADRB2 regulatory region polymorphisms and susceptibility to childhood asthma
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ABSTRACT: 目的
研究β2肾上腺素受体（β2-drenergic receptor，ADRB2）基因调控区rs11168070、rs17108803、rs2053044、rs12654778、rs11959427和rs2895795位点单核苷酸多态性（single nucleotide polymorphism，SNP）/单倍型与儿童哮喘的关系，从而进一步探索儿童哮喘的发病机制。 方法
前瞻性选取2016年10月至2020年10月就诊的哮喘儿童143例（哮喘组），其中轻度61例（轻度组），中重度82例（中重度组）；137例健康儿童作为对照组。采集两组儿童外周静脉血，应用SNaPshot SNP技术检测所有儿童ADRB2基因调控区rs11168070、rs17108803、rs2053044、rs12654778、rs11959427和rs2895795位点SNP并分析单倍型，比较哮喘组和对照组儿童ADRB2基因调控区6个位点SNP/单倍型与哮喘易感及病情程度的关系。 结果
哮喘组和对照组儿童ADRB2基因调控区6个位点存在多态性，其中rs2895795（-1429T/A）、rs2053044（-1023G/A）和rs12654778（-654G/A）位点基因型及等位基因频率分布差异有统计学意义（P<0.05）。ADRB2基因调控区6个位点SNP存在连锁不平衡，构成的单倍型TATGCT、TATGGC和AGTGCT与儿童哮喘易感相关，其中TATGCT和TATGGC是儿童哮喘的危险因素（分别OR=1.792、1.946，P<0.05），而AGTGCT是保护性因素（OR=0.523，P<0.05）。 结论
ADRB2基因调控区SNP/单倍型与儿童哮喘易感性相关，其构成的单倍型TATGCT和TATGGC是儿童哮喘的危险因素，AGTGCT是保护性因素。
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PROVIDER: S-EPMC8580024 | biostudies-literature |
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