Association of TLR4 gene polymorphisms with childhood Henoch–Schönlein purpura in a Chinese population

• Published in: Rheumatology international 2017-11, Vol.37 (11), p.1909-1915
• Main Authors: Xu, Hui, Jiang, Guizhen, Shen, Hongqiang, Li, Wei, Mao, Jianhua, Pan, Yanxiang
• Format: Article
• Language: English
• Subjects: Child; Child, Preschool; Childhood; Desorption; Female; Gene Frequency; Genes and Disease; Genetic Predisposition to Disease; Genotype; Humans; Ions; Lasers; Male; Medicine; Medicine & Public Health; Polymorphism, Single Nucleotide; Purpura, Schoenlein-Henoch - genetics; Rheumatology; Toll-Like Receptor 4 - genetics
• ISSN: 0172-8172; 1437-160X
• DOI: 10.1007/s00296-017-3815-1

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.