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目的探讨信号转导子及转录激活因子2(signal transducer and activator of transcription2,STAT2)基因单核苷酸多态(single nucleotide polymorphism,SNP)位点rs2066807C→G与潍坊地区汉族人群支气管哮喘发病的关系。方法188例支气管哮喘病人(其中儿童50例,成人138例)和180名健康人群(其中儿童93名,成人87名),应用PCR-RFLP方法检测STAT2基因rs2066807C→G多态性。结果STAT2基因rs2066807C→G多态位点CC、CG、GG基因型频率,哮喘组分别为0.0%、4.3%、95.7%,正常对照组分别为0.0%、1.7、98.3%;C和G等位基因频率,哮喘组为0.021和0.979,对照组为0.008和0.992。STAT2基因型和等位基因频率在哮喘组和正常对照组比较均无显著性差异(P>0.05)。携带CG基因型和C等位基因个体发哮喘的相对风险OR值分别为2.62(95%CI:0.51~13.47)和2.59(95%CI:0.88~7.66)(P>0.05)。儿童哮喘组和成人哮喘组STAT2基因型和等位基因频率比较无显著性差异(P>0.05)。结论STAT2基因rs2066807C→G多态性与潍坊地区汉族人群哮喘发病无明显相关性。
Objective To investigate the relationship between the single nucleotide polymorphism (SNP) rs2066807C → G of signal transducer and activator of transcription2 (STAT2) gene and bronchial asthma in Han population of Weifang . Methods A total of 188 patients with bronchial asthma (including 50 children and 138 adults) and 180 healthy people (93 children and 87 adults) were enrolled in this study. The rs2066807C → G polymorphism of STAT2 gene was detected by PCR-RFLP. Results The frequencies of genotypes CC, CG and GG of rs2066807C → G polymorphism in STAT2 gene were 0.0%, 4.3% and 95.7% in asthma group and 0.0% and 1.7% and 98.3% in normal control group respectively. C and G alleles Gene frequency, asthma group was 0.021 and 0.979, the control group was 0.008 and 0.992. STAT2 genotype and allele frequency in the asthma group and the normal control group showed no significant difference (P> 0.05). The odds ratios for relative risk of asthma were 2.62 (95% CI: 0.51-13.47) and 2.59 (95% CI: 0.88-7.66), respectively (P> 0.05) for individuals with CG genotype and C allele. STAT2 genotype and allele frequency in asthmatic children and adult asthmatic children had no significant difference (P> 0.05). Conclusion There is no significant correlation between rs2066807C → G polymorphism of STAT2 gene and asthma in Han population of Weifang region.