Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, 130-701, Republic of Korea.
Eur J Pediatr. 2011 Apr;170(4):503-9. doi: 10.1007/s00431-010-1325-1. Epub 2010 Oct 16.
Toll-like receptors (TLRs) play an important role in the induction and regulation of the innate immune system and adaptive immune responses. TLR10 gene polymorphisms have been reported to be associated with a range of immune-related diseases. In this study, we investigated the association of TLR10 gene polymorphisms with immunoglobulin A nephropathy (IgAN) in Korean children. To examine the association, we genotyped one promoter single nucleotide polymorphisms (SNP) [rs10004195 (-113T/A)] and three missense SNPs [rs11096957 (Asn241His), rs11096955 (Ile369Leu), and rs4129009 (Ile775Val)] using direct sequencing in 199 IgAN patients and 289 control subjects. Our case-control analysis showed that rs10004195 was associated with IgAN (codominant model, p = 0.016 in TT vs. TA; p = 0.044 in TT vs. AA; dominant model, p = 0.0068). In addition, when comparing the proteinuria level of IgAN patients according to the genotypes of each SNP, we found that in dominant model of rs1004195, the level of proteinuria of patients with TA or AA genotypes (median, 4.01 mg/m(2)/h) was higher than that of patients with TT genotype (2.00 mg/m²/h, p = 0.033). In conclusion, these results suggest that TLR10 gene may be associated with susceptibility to IgAN in Korean children.
Toll 样受体 (TLRs) 在诱导和调节先天免疫系统和适应性免疫反应方面发挥着重要作用。TLR10 基因多态性与一系列免疫相关疾病有关。在这项研究中，我们研究了 TLR10 基因多态性与韩国儿童免疫球蛋白 A 肾病 (IgAN) 的关系。为了研究这种关联，我们通过直接测序对 199 名 IgAN 患者和 289 名对照者的一个启动子单核苷酸多态性（SNP）[rs10004195(-113T/A)]和三个错义 SNP [rs11096957(Asn241His)、rs11096955(Ile369Leu)和 rs4129009(Ile775Val)]进行了基因分型。我们的病例对照分析表明，rs10004195 与 IgAN 相关（共显性模型，TT 与 TA 相比，p = 0.016；TT 与 AA 相比，p = 0.044；显性模型，p = 0.0068）。此外，当根据每个 SNP 的基因型比较 IgAN 患者的蛋白尿水平时，我们发现 rs1004195 的显性模型中，TA 或 AA 基因型（中位数，4.01mg/m²/h）患者的蛋白尿水平高于 TT 基因型（2.00mg/m²/h，p = 0.033）。综上所述，这些结果表明 TLR10 基因可能与韩国儿童 IgAN 的易感性有关。
