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目的探讨信号转导子及转录激活因子2(STAT2)基因单核苷酸多态位点rs2066807C→G多态性与潍坊地区汉族人群儿童哮喘的关系。方法应用PCR-限制性内切酶多型性法,对92例支气管哮喘患儿(哮喘组)和98例健康儿童(健康对照组)STAT2基因rs2066807C→G多态性进行检测,计算基因型和等位基因频率,组间比较采用χ2检验。相关疾病的基因型风险率以参与风险及比值比(OR)表示,95%可信区间(95%CI)计算采用Miettinen法。结果STAT2基因rs2066807C→G多态位点CC、CG、GG基因型频率,哮喘组患儿分别为0、3.4%、96.6%,健康对照组分别为0、6.1%、93.9%;C和G等位基因频率,哮喘组为1.6%和98.4%,健康对照组为3.1%和96.9%。哮喘组STAT2基因各基因型和等位基因频率和健康照组比较差异均无统计学意义(Pa>0.05)。携带CG基因型和C等位基因的儿童发生支气管哮喘的相对风险OR值分别为0.34(95%CI:0.05~4.96)和0.33(95%CI:0.05~4.93)(Pa>0.05)。结论STAT2基因rs2066807C→G多态性与潍坊地区儿童支气管哮喘发病无明显相关性。
Objective To investigate the association of SNP rs2066807C → G polymorphisms in signal transducer and activator of transcription 2 (STAT2) gene with asthma in Han population of Weifang region. Methods The rs2066807C → G polymorphisms of STAT2 gene in 92 children with bronchial asthma (asthma group) and 98 healthy children (healthy control group) were detected by PCR-restriction endonuclease polymorphism. The genotype and Allele frequency, comparison between groups using χ2 test. Genotype risk ratios for related diseases were expressed as risk of participation and odds ratio (OR), and the 95% confidence interval (95% CI) was calculated using the Miettinen method. Results The frequencies of genotypes CC, CG and GG of rs2066807C → G polymorphism in STAT2 gene were 0, 3.4% and 96.6% respectively in asthma group and 0, 6.1 and 93.9% respectively in healthy controls; C and G The gene frequency of asthma was 1.6% and 98.4% in the asthma group and 3.1% and 96.9% in the healthy control group. There was no significant difference in the genotype and allele frequencies of STAT2 gene between asthma group and healthy controls (Pa> 0.05). The odds ratios for bronchial asthma in children with CG genotype and C allele were 0.34 (95% CI: 0.05-4.96) and 0.33 (95% CI: 0.05-4.93, respectively) (Pa> 0.05). Conclusion STAT2 gene rs2066807C → G polymorphism in Weifang children with bronchial asthma incidence was not significantly correlated.