【摘要】 目的 探讨胸腺基质淋巴细胞生成素基因（TSPL）的单核苷酸多态性位点（SNP）与湖北鄂东地区儿童哮喘的关联性。方法 选取2020年1月至2022年3月在湖北黄石市三级甲等医院确诊的163例哮喘患儿作为哮喘组，选取同期在院体检的155名健康儿童作为对照组，运用Sequenom MassArray质谱芯片微列阵技术对两组对象TSPL基因的五个SNP位点（rs3806933、rs2289278、rs17551370、rs1837253和rs11466749）进行基因分型检测，分析上述各位点在两组间的基因型、等位基因和遗传模型的分布差异，筛选湖北地区儿童哮喘易感SNP位点。结果 两组儿童五个SNP位点的基因型频率分布均符合Harydy-Weinberg平衡定律（P>0.05）。与TSLP互作的蛋白主要为细胞因子白介素家族成员，分别为IL4R、IL7R、IL13、IL5、IL33、IL7、IL2、IL9、CRLF2。在互作网络图中，IL4、IL5和IL9属于中心蛋白，发挥重要作用。两组在rs3806933、rs2289278、rs17551370三个位点的基因分布频率差异无统计学意义（P>0.05）。哮喘组rs1837253位点TT基因型和rs11466749位点GG基因型分布频率均显著低于对照组，是哮喘疾病的保护因素（OR值：0.614,95%CI:0.388～0.972,P<0.05;OR值：0.481,95%CI:0.429～0.539,P<0.05）;rs1837253位点的隐性遗传模型是儿童哮喘疾病的危险因素（OR值：1.629,95%CI:1.029～2.579,P<0.05）; rs11466749位点的显性遗传和显性纯合子遗传模型是儿童哮喘疾病的危险因素（OR值：2.079,95%CI:1.854～2.333,P<0.05;OR值：2.098,95%CI:1.846-2.384,P<0.05）。结论 TSPL基因rs1837253和rs11466749位点多态性与我国湖北地区儿童哮喘的易感性相关；rs3806933、rs2289278和rs17551370位点多态性与我国湖北地区儿童哮喘无显著相关性。更多还原

【Abstract】 Objective To investigate the relationship between polymorphisms of TSLP gene and bronchial asthma of children in Hubei Province. Methods 163 children with asthma diagnosed in Huangshi City of Hubei Province from January 2020 to March 2022 were selected as the asthma group, while 155 healthy children who had a physical examination in the hospital during the same period were selected as the control group.The genotypes of multiple SNPs(rs3806933、rs2289278、rs17551370、rs1837253 和 rs11466749)loci in TSLP genes were analyzed by Sequenom MassArray spectrometry chip microarray technology.The differences in the distribution of these SNPs between the two groups were analyzed, so as to screen for the susceptibility to asthmatic children in Hubei Province. Results In two groups, The genotype frequency distributions of the five SNP loci in the children conformed to the Harydy-Weinberg equilibrium law(P>0.05).The proteins that interact with TSLP are mainly members of the cytokine interleukin family, namely IL4R IL7R, IL13, IL5,IL33, IL7, IL2、IL9, CRLF2. In the interaction network diagram, IL4, IL5, and IL9 belong to the central proteins and play important roles. There was no statistical difference in the frequency of gene distribution between the two groups at rs3806933, rs2289278, and rs17551370(P>0.05). The distribution frequencies of TT genotype at rs1837253 locus and GG genotype at rs11466749 locus in the asthma group were significantly lower than those in the control group, indicating that they are protective factors for asthma disease(OR value: 0.614, 95% CI: 0.388-0.972,P<0.05); OR value:0.481,95% CI: 0.429～0.539, P<0.05);the recessive genetic model of the rs1837253 was a risk factor for asthma disease in children(OR value: 1.629, 95%CI:1.029～2.579, P<0.05); the dominant inheritance and dominant purebred inheritance model at rs11466749 were risk factors for asthma disease in children(OR value: 2.079, 95% CI: 1.854～2.333, P<0.05; OR value: 2.098, 95% CI: 1.846～2.384, P<0.05). Conclusions The polymorphisms of rs1837253 and rs11466749 in TSPL gene was associated with the susceptibility to childhood asthma in Hubei Province,while the SNPs of rs3806933, rs2289278 and rs17551370 were no significantly associated with children asthma in the Hubei region of China.更多还原