摘要目的 研究白细胞介素( interleukin,IL)4基因启动区33、590位点以及IL-10基因启动区1082位点的基因多态性与上海地区汉族人群中慢性鼻-鼻窦炎(又称鼻窦炎,chronic rhinosinusitis,CRS)易感性之间的关系.方法 选取上海地区汉族人群中的CRS患者123例,健康对照239例作为研究对象,用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)技术检测IL-4基因33和590位点基因型,用扩增耐突变系统-聚合酶链反应( amplification refractory mutation system-polymerase chain reaction,ARMS-PCR)技术检测IL-10基因1082位点基因型,采用SAS 8.2统计软件对实验结果进行X2检验.结果 IL-4基因33位点各等位基因频率在病例组与对照组分别为C:28/90,T:218/388,差异有统计学意义(x2=6.6013,P=0.0102)；590位点分别为C:34/95,T:212/383,差异有统计学意义(x2=6.6013,P=0.0304),经Bonferroni校正后,33位点差异仍有统计学意义(P ＜0.025).33位点TT基因型和590位点TT基因型频率在病例组分别为97、91,在对照组分别为159、147,其携带者患CRS的风险分别增加至1.818倍(P=0.0236,95％可信区间为1.084 ～3.050)和1.838倍(P=0.0147,95％可信区间为1.127～2.997),这两个位点存在连锁不平衡(D’=0.77,r2 =0.54),形成的T/T单倍型携带者患CRS风险增加至1.653倍(P=0.013,95％可信区间为1.107 ～2.469)；IL-10基因1082位点仅发现AG和AA两种基因型,二者的组间分布无差异.结论 IL-4基因33和590位点基因多态性与CRS发病相关,33T/590T单倍型是CRS易感性的独立危险因素,IL-10基因1082位点多态性与CRS发病无相关性.

abstractsObjective To investigate the relationship between the promoter polymorphism of IL-4 and IL-6 and chronic rhinosinusitis (CRS).Methods One hundred and twenty-three patients with CRS and 239 healthy controls in Shanghai region were chosen in this study.The genotype of IL-4 gene -33T ＞ C and -590C ＞ T were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and the genotype of IL-10 gene -1082A ＞ G was determined using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method. Statistical calculations were performed using SAS 8.2 software.Results Significant differences were found in genotype distribution of-33T ＞ C and -590C ＞ T between the CRS group and the control group( x2 =6.6013,P =0.0102,x2 =6.6013,P =0.0304),and -33T ＞ C remained significant following application of the Bonferroni correction (P＜0.025).The relative risks of CRS with -33T ＞ C and -590C ＞ T were 1.818(P =0.0236,95％ CI 1.084 -3.050) and 1.838(P =0.0147,95％ CI 1.127 -2.997).There was linkage disequlibrium (LD)between the -33T ＞ C and -590C ＞ T.The coefficient of linkage disequlibrium ( D' ) was 0.77 and the related coefficient (r2 ) was 0.54.The -33T/-590T haplotype was associated with CRS and the relative risk was 1.653 (P =0.0130,95％ CI 1.107 -2.469).There were only two genotypes of IL-10 gene -1082A ＞ G and the frequencies of the AA and AG genotypes were not different between the CRS and control groups.Conclusion The promoter polymorphism of IL-4 -33T ＞ C and -590C ＞ T were associated with the susceptibility of CRS and the -33T/-590T haplotype was a risk facter for CRS,but there were no assiciation between the -1082A ＞ G and CRS.