IL-23R基因多态性与变应性鼻炎遗传易感性研究

Association analysis of IL-23 Rpolymorphisms in allergic rhinitis

目的:最近的研究显示,IL-23/IL-17通路在变应性鼻炎(AR)的发病中起重要作用。本实验讨论IL-23R基因多态性与中国人群AR易感性是否存在相关性。方法:收集239例AR患者(AR组)及271例对照组的抗凝血液标本进行病例对照研究。提取血液样本中的DNA,并运用PCR-RFLP和直接测序的方法对DNA样本中IL-23R基因的3个多态位点(rs7517847、rs11209032、rs1343151)进行基因分型。结果:AR组及对照组的IL-23R基因的3个SNP分型结果均符合哈迪温伯格平衡(P>0.05)。AR组中rs7517847GG基因型及G等位基因频率显著高于对照组(P<0.05)。除此之外,相对于对照组,我们还观察到GGA单体型在AR组中频率明显增高(P<0.05)。而GGA单体型在AR组中相对较低,差异有统计学意义(P<0.05),可能在对照组中提供了保护作用。其他单体型的频率在AR组和对照组比较中均差异无统计学意义。结论:AR的遗传易感性与IL-23R基因多态性有明显相关性,IL-23R的rs7517847位点的多态性与AR的易感性有关。

Objective：Polymorphism of interleukin-23 receptor（IL-23R）gene was found being related with the susceptibility to several immune-related.diseases. For the terminal differentiation of IL-17-produeing effecter T- helper cells in vivo, the IL-23R gene is very important. As proved recently, Th17 cells might have a great influ- ence to the pathogenesis of allergic airways disease. Our intention was paid to find any association between the pol- ymorphisms in the IL-23R gene and allergic rhinitis（AR） in Chinese population. Method： A group of patients was involved in a case-control comparison, consisted of 239 AR patients and 271 control Chinese subjects. The study claimed to take some blood samples for DNA extraction and select 3 single-nucleotide polymorphisms in IL-23R in- dividually genotyped by the PCR-RFLP method. Result：Comparison with the controls, a great growing prevalence of the bomozygous rs751784;7 GG genotype and G allele appeared in AR patients（P〈0.05, respectively）. Be- sides, a great increased frequency of the GGA haplotypes was presented in AR patients in comparison with the controls（P〈0.05）. Conclusion： The results demonstrated a important association pattern between polymorphisms in IL-23R and AR in Chinese population. Between rs7517847 in an SNP of IL 23R and AR, a great association was identified.