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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 investigate the relationship between TLR3 SNPs and the risk of asthma and the related phenotypes of asthma in southeastern Han population of China. Methods: The nonsynonymous SNPs rs3775291 located in exon 4 of TLR3 were selected. Continuous recruitment of asthma patients 318 people, 352 normal controls. Multiplex PCR combined with tag array single base extension genotyping. The case-control study analyzed the association of this locus with asthma and asthma phenotypes. Results: rs3775291 was not associated with the risk of asthma as a whole, but independently associated with allergic asthma, GA + AA genotypes reduced the risk of developing allergic asthma by 31% (adjusted OR = 0.69, 95% CI = 0.49-0.97 ). Patients with GA or AA genotype had less chance of developing nocturnal asthma than those with GG genotype, but no correlation with peripheral blood eosinophils, total plasma IgE, and asthma severity in asthmatics. Conclusion: TLR3 SNPs are closely related to asthma, which is important for the prevention of asthma at high risk of asthma.