Toll样受体3单核苷酸多态性与中国东南方汉族人群哮喘关系的研究

Association between polymorphisms of Toll-like receptor 3 and asthma in a southeastern Chinese Han Population

目的:探讨TLR3单核苷酸多态性(SNPs)与中国东南方汉族人群哮喘发病危险性和哮喘相关表型的关系。方法:挑选位于TLR3第4外显子区的非同义SNPs rs3775291。连续性招募哮喘患者318人,正常对照352人。采用多重PCR结合标签阵列单碱基延伸技术进行基因分型。通过病例-对照研究分析该位点与哮喘及哮喘表型的关系。结果:rs3775291在整体上与哮喘发病危险度无相关性,但是与过敏性哮喘独立相关,GA+AA基因型降低过敏性哮喘发病危险性31%(校正OR=0.69,95%CI=0.49-0.97)。携带GA或AA基因型的哮喘患者比GG基因型者发生夜间哮喘的机会少,但与哮喘患者的外周血嗜酸性粒细胞、血浆总IgE、哮喘严重度分级无相关性。结论:TLR3 SNPs与哮喘密切相关,这对筛选哮喘高危人群和哮喘的预防有重要意义。

Objective：To evaluate the effects of TLR3 single nucleotide polymorphisms （SNPs） on asthma risk and asthma-related phenotypes in a southeastern Chinese Han Population. nethods：rs3775291 ,a nonsynonymous SNP which was located in the fourth exon of TLR3, was selected. Three hundred and eighteen unrelated adult asthmatic patients and 352 healthy volunteers from the same area of southeast China were recruited in this study. Genotyping of the selected SNP was performed using multiplex PCR in conjunction with tagged array single base extension technology. We conducted case-control association studies between the selected SNP in TLR3 and asthma or asthma-related phenotypes. Results：rs3775291 SNPs was not associated with asthma morbid risk in whole. However, GA＋AA genotypes had a significant reduced risk of atopic asthma by 31% （adjusted OR= 0.69,95%CI = 0.49-0.97）,which showed an independent role. The carriers of GA/AA genotype appeared less nocturnal asthma symptom compared with those of GG genotype. No correlation was found between the SNP and eosinophil counts, total serum IgE levels or asthma severity. Conclusion：TLR3 polymorphisms may play a considerable role in the pathogenesis of atopic asthma. It could be clinically useful both for identifying patients at risk of asthma and for preventing its occurrence.