Department of Clinical Laboratory, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Department of Nephrology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, 310006, Zhejiang Province, China.
Rheumatol Int. 2017 Nov;37(11):1909-1915. doi: 10.1007/s00296-017-3815-1. Epub 2017 Sep 13.
Recent studies demonstrated that aberrant activation of Toll-like receptor (TLR) 4 was involved in the pathogenesis of Henoch-Schönlein purpura (HSP). In this study, we evaluated the association between TLR4 gene polymorphisms and the risk of childhood HSP in a Chinese population. A total of 175 HSP patients and 186 controls were recruited in this case-control study. Three single-nucleotide polymorphisms of the TLR4 gene (rs1927914, rs10759932 and rs1927907) were genotyped using the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) and Sequenom MassARRAY system. Our results revealed that a significantly reduced risk for HSP was associated with the G allele (OR = 0.71; p = 0.023) and G/G genotype (OR = 0.49; p = 0.021) of rs1927914. We also showed that rs1927914 variant decreased the risk of HSP in recessive inheritance model (OR = 0.55; p = 0.035, G/G vs A/A + A/G). In addition, we observed that a significantly decreased frequency of the haplotype GTC (rs1927914-rs10759932-rs1927907) in HSP patients compared with controls (OR = 0.56; p = 0.028). Our data suggested that TLR 4 rs1927914 polymorphism was associated with the decreased susceptibility to HSP in the Chinese children.
最近的研究表明,Toll 样受体(TLR)4 的异常激活与过敏性紫癜(HSP)的发病机制有关。在这项研究中,我们评估了 TLR4 基因多态性与中国人群儿童 HSP 发病风险之间的关系。这项病例对照研究共纳入 175 例 HSP 患者和 186 例对照。采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)和 Sequenom MassARRAY 系统对 TLR4 基因的 3 个单核苷酸多态性(rs1927914、rs10759932 和 rs1927907)进行基因分型。我们的研究结果显示,rs1927914 的 G 等位基因(OR=0.71,p=0.023)和 G/G 基因型(OR=0.49,p=0.021)与 HSP 的发病风险降低显著相关。我们还发现,在隐性遗传模型中,rs1927914 变异降低了 HSP 的发病风险(OR=0.55,p=0.035,G/G 与 A/A+A/G)。此外,我们观察到 HSP 患者中 rs1927914-rs10759932-rs1927907 单倍型 GTC 的频率显著降低(OR=0.56,p=0.028)。我们的数据表明,TLR4 rs1927914 多态性与中国儿童 HSP 易感性降低有关。