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目的:探讨IL-13基因的单核苷酸多态性(SNP)位点rs1295686、rs20541、rs1800925和儿童哮喘易感性的相关性,以期提高临床诊治水平。方法:应用基质辅助激光解吸附电离飞行时间质谱(MALDI-TOF-MS)平台和MassARRAY-IPLEX技术,回顾性分析湖北地区230例儿童哮喘患者为观察组,另外选取220例健康患者为对照组,比较两组单核苷酸多态性位点和哮喘遗传易感性的相关性情况,用χ2检验观察两组的基因型和等位基因的频率,采用Logistic回归分析两组在性别、年龄较正因素外,采用计算比数比(OR)和95%可信区间(CI)评价多态性位点和哮喘易感性的关系。结果:rs1295686 SNP位点上存在着CC、CT、TT 3种多态性,其分布频率在观察组分别为65.2%、30.9%、3.9%;而对照组分别为68.6%、28.2%、3.2%,两组比较差异有统计学意义(P<0.05);而在rs20541 SNP位点上存在着GG、GA、AA 3种基因多态性,其分布频率在观察组分别为13.9%、44.8%、41.3%;而对照组在GG、GA、AA分布频率分别为7.8%、36.0%、56.0%,两组比较差异有统计学意义(P<0.05)。rs1800925 SNP位点在湖北黄石地区存在CC、CT、TT 3种基因多态性,统计结果显示其分布频率在观察组为23.0%、63.9%、13.1%;而对照组分别为30.4%、63.2%、6.4%,两组比较差异无统计学意义(P>0.05)。结论:IL-33单核苷酸多态性位点中,rs1295686、rs20541和儿童哮喘易感性密切相关,而rs1800925和儿童哮喘易感性无关。
Objective: To investigate the association of SNP rs1295686, rs20541, rs1800925 and childhood asthma susceptibility in IL-13 gene in order to improve the level of clinical diagnosis and treatment. Method: matrix-assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) platform and MassARRAY-IPLEX technology, retrospective analysis Hubei 230 cases of children with asthma observation group, further select 220 cases of healthy patients in the control group, The correlation between genetic polymorphisms of two SNPs and susceptibility to asthma was compared. Chi-square test was used to observe the genotype and allele frequency of the two groups. Logistic regression analysis was used to analyze the correlation between gender and age In addition, odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association of polymorphic loci with susceptibility to asthma. Results: There were three polymorphisms of CC, CT and TT at SNP loci in rs1295686, which were 65.2%, 30.9% and 3.9% respectively in the observation group and 68.6%, 28.2% and 3.2% in the control group respectively (P <0.05). There were three genetic polymorphisms of GG, GA and AA at the SNP loci of rs20541, the frequencies of which were 13.9% and 44.8% respectively in the observation group, 41.3% respectively. The frequencies of GG, GA and AA in control group were 7.8%, 36.0% and 56.0%, respectively. There was significant difference between the two groups (P <0.05). rs1800925 SNP site present in the 3 kinds of Hubei Yellowstone CC, CT, TT polymorphism, statistics show the frequency distribution in the observation group was 23.0%, 63.9%, 13.1%; the control group were 30.4%, 63.2% , 6.4% respectively. There was no significant difference between the two groups (P> 0.05). CONCLUSIONS: Among the IL-33 SNPs, rs1295686 and rs20541 are closely related to childhood asthma susceptibility, while rs1800925 is not associated with childhood asthma susceptibility.