Department of Pathology, Institute of Wonkwang Medical Science, Wonkwang University School of Medicine, Iksan, Chonbuk, South Korea.
Eur Arch Otorhinolaryngol. 2010 Mar;267(3):385-9. doi: 10.1007/s00405-009-1100-y. Epub 2009 Sep 18.
The TLRs gene encodes the principal innate immunity receptor in humans. The TLR2 Arg753Gln and Arg677Trp polymorphisms have been associated with a reduced response of monocytes and cell lines to challenge with mycobacteria. The TLR4 Asp299Gly and Thr399Ile polymorphisms have been associated with a reduction in the inflammatory responses to lipopolysaccharide in humans. It has been suggested that TLR2 and TLR4 polymorphisms may be associated with allergic responses; thus, we hypothesized that TLR2 and TLR4 polymorphisms may modify the relative risk for development of allergic rhinitis. The Taqman assay and high-resolution melt (HRM) were used for genotyping. We analyzed two single nucleotide polymorphisms (SNPs; 597T>C and 1350T>C) in the TLR2 gene and 1 SNP (4216G>C) in the TLR4 gene. We compared the genotype of these SNPs in patients with allergic rhinitis and controls without allergic rhinitis. We also estimated the haplotype frequencies between the two groups. The genotype and allele frequencies of the 597T>C and 1350T>C SNPs in the TLR2 gene were not significantly different between the patients with allergic rhinitis and controls (P > 0.05). The genotype and allele frequencies of 4216G>C in the TLR4 gene were not significantly different between the patients with allergic rhinitis and controls (P > 0.05). Haplotype analysis of the following two different (597)-(1350) major haplotypes (frequency >0.05) were present in the TLR2 gene: T-C and C-C. The C-C haplotype was positively associated with allergic rhinitis (P = 0.048). Our study suggests that the TLR2 gene polymorphisms might be susceptible to the development of allergic rhinitis. Further functional studies of TLR2 genetics in light of the associations with allergic rhinitis inflammation would help clarify the role of TLR2 genetics in clinical evaluations.
TLR 基因编码人类主要的先天免疫受体。TLR2 Arg753Gln 和 Arg677Trp 多态性与单核细胞和细胞系对分枝杆菌挑战的反应降低有关。TLR4 Asp299Gly 和 Thr399Ile 多态性与人类对脂多糖的炎症反应降低有关。有人认为 TLR2 和 TLR4 多态性可能与过敏反应有关；因此，我们假设 TLR2 和 TLR4 多态性可能改变过敏性鼻炎发病的相对风险。Taqman 检测法和高分辨率熔解曲线（HRM）用于基因分型。我们分析了 TLR2 基因中的两个单核苷酸多态性（SNP；597T>C 和 1350T>C）和 TLR4 基因中的 1 个 SNP（4216G>C）。我们比较了过敏性鼻炎患者和无过敏性鼻炎对照者这些 SNP 的基因型。我们还估计了两组之间的单倍型频率。TLR2 基因中 597T>C 和 1350T>C SNPs 的基因型和等位基因频率在过敏性鼻炎患者和对照组之间无显著差异（P>0.05）。TLR4 基因中 4216G>C 的基因型和等位基因频率在过敏性鼻炎患者和对照组之间无显著差异（P>0.05）。TLR2 基因中存在以下两个不同（597）-（1350）主要单倍型（频率>0.05）的单倍型分析：T-C 和 C-C。C-C 单倍型与过敏性鼻炎呈正相关（P=0.048）。我们的研究表明，TLR2 基因多态性可能易患过敏性鼻炎。鉴于与过敏性鼻炎炎症的相关性，进一步研究 TLR2 遗传学的功能将有助于阐明 TLR2 遗传学在临床评估中的作用。
