信号转导子及转录激活因子2基因rs2066807C→G多态性与支气管哮喘的相关性

Relationship between Single Nucleotide Polymorphism of Signal Transducer and Activator of Transcription 2 Gene rs2066807C→G and Bronchial Asthma in Children

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 explore a potential association of the single nucleotide polymorphism of signal transducer and activator of tran- scription 2（STAT2） gone rs2066807C→G with bronchial asthma in children. Methods The STAT2 gene rs2066807C→G polymorphism was determined by polymerase chain reaction - restriction fragment length polymorphism in 92 patients with asthma（ asthma group） and 98 healthy children （ healthy control group）. Odds ratios （OR） and 95 % CI, using Miettinen method, were obtained to evaluate the association between the polymorphisms and asthma. Results The frequencies of STAT2 gene CC, CG and GG genotypes were 0,3.4% and 96.6%, respectively in asthma group, and 0,6.1% and 93.9 % , respectively in healthy control group. The frequencies of C and G allele were 1.6% and 98.4% ,respectively in asthma group, and 3.1% ,96.9% , respectively in heathly control group. There were no differences in the frequencies of genotypes and alleles for STAT2 gene in 2 groups（P 〉 0.05 ）. The individuals with CG genotype and C allele were 0.34 （95% CI：0. 05 - 4.96） and 0.33 （95% CI： 0. 05 -4.93 ） times susceptible to asthma than the healthy control group （Pa 〉 0.05 ）. Conclusion The STAT2 gene rs2066807C→G polymorphism is not significantly implicated in their susceptibility to bronchial asthma in children.