PDF(Pubmed)
Abstract：
UNASSIGNED: Henoch-Schönlein purpura (HSP) is the most common systemic vasculitis in children. HSP is a multifactorial inflammatory disease, but its pathogenesis is still unclear. The pathogenicity of familial Mediterranean fever gene (MEFV) variants in HSP remains controversial. The objective of this study was to evaluate relationships between MEFV variants and susceptibility to HSP and their associations with clinical outcomes. We also investigated levels of IL-33 and soluble suppression of tumorigenicity 2 (sST2) in children with HSP and their clinical significance.
UNASSIGNED: We selected 100 children with HSP as the case group. The control group consisted of 50 children who visited the hospital for physical health examinations. All subjects were screened for MEFV gene exon mutations, and levels of IL-33 and sST2 were measured.
UNASSIGNED: The frequency of MEFV variants was significantly greater in HSP patients than in healthy controls. The variant with the highest frequency was E148Q. The frequency of the C allele of the MEFV variant E148Q was 32 % in HSP patients and 18 % in controls (P-adjust = 0.04). Patients with the MEFV E148Q variant had more frequent joint involvement and recurrent purpura and higher levels of IL-33 and C-reactive protein (CRP). Levels of IL-33 and sST2 in children with HSP were significantly higher than those in the control group, and the sST2/IL-33 ratio in children with HSP was unbalanced (P-adjust <0.05). Logistic regression analysis revealed the presence of E148Q and an unbalanced sST2/IL-33 ratio to be independent risk factors for HSP.
UNASSIGNED: The results of this study suggest that the MEFV variant E148Q is associated with HSP susceptibility in Chinese children and that carriers of the variant may have more severe clinical manifestations and greater inflammatory responses. E148Q and the sST2/IL-33 ratio may play important roles in the pathogenesis of HSP.
UNASSIGNED: We selected 100 children with HSP as the case group. The control group consisted of 50 children who visited the hospital for physical health examinations. All subjects were screened for MEFV gene exon mutations, and levels of IL-33 and sST2 were measured.
UNASSIGNED: The frequency of MEFV variants was significantly greater in HSP patients than in healthy controls. The variant with the highest frequency was E148Q. The frequency of the C allele of the MEFV variant E148Q was 32 % in HSP patients and 18 % in controls (P-adjust = 0.04). Patients with the MEFV E148Q variant had more frequent joint involvement and recurrent purpura and higher levels of IL-33 and C-reactive protein (CRP). Levels of IL-33 and sST2 in children with HSP were significantly higher than those in the control group, and the sST2/IL-33 ratio in children with HSP was unbalanced (P-adjust <0.05). Logistic regression analysis revealed the presence of E148Q and an unbalanced sST2/IL-33 ratio to be independent risk factors for HSP.
UNASSIGNED: The results of this study suggest that the MEFV variant E148Q is associated with HSP susceptibility in Chinese children and that carriers of the variant may have more severe clinical manifestations and greater inflammatory responses. E148Q and the sST2/IL-33 ratio may play important roles in the pathogenesis of HSP.
摘要：
■过敏性紫癜（HSP）是儿童最常见的系统性血管炎。HSP是一种多因素炎性疾病,但其发病机制尚不清楚。家族性地中海热基因（MEFV）变异在HSP中的致病性仍存在争议。这项研究的目的是评估MEFV变异与HSP易感性之间的关系及其与临床结果的关系。我们还研究了HSP患儿的IL-33水平和可溶性致瘤性抑制2（sST2）及其临床意义。
■我们选择了100名患有HSP的儿童作为病例组。对照组包括50名前往医院进行身体健康检查的儿童。所有受试者均筛查MEFV基因外显子突变，测量IL-33和sST2的水平。
■HSP患者的MEFV变异频率明显高于健康对照组。具有最高频率的变体是E148Q。MEFV变体E148Q的C等位基因频率在HSP患者中为32％，在对照组中为18％（P调整=0.04）。MEFVE148Q变体的患者关节受累和复发性紫癜更频繁，IL-33和C反应蛋白（CRP）水平更高。HSP患儿IL-33和sST2水平明显高于对照组,HSP患儿sST2/IL-33比值不平衡(P调整值<0.05)。Logistic回归分析显示E148Q和sST2/IL-33比值失衡是HSP的独立危险因素。
■这项研究的结果表明，MEFV变异体E148Q与中国儿童的HSP易感性有关，并且该变异体的携带者可能具有更严重的临床表现和更大的炎症反应。E148Q和sST2/IL-33比值可能在HSP的发病机制中起重要作用。
■我们选择了100名患有HSP的儿童作为病例组。对照组包括50名前往医院进行身体健康检查的儿童。所有受试者均筛查MEFV基因外显子突变，测量IL-33和sST2的水平。
■HSP患者的MEFV变异频率明显高于健康对照组。具有最高频率的变体是E148Q。MEFV变体E148Q的C等位基因频率在HSP患者中为32％，在对照组中为18％（P调整=0.04）。MEFVE148Q变体的患者关节受累和复发性紫癜更频繁，IL-33和C反应蛋白（CRP）水平更高。HSP患儿IL-33和sST2水平明显高于对照组,HSP患儿sST2/IL-33比值不平衡(P调整值<0.05)。Logistic回归分析显示E148Q和sST2/IL-33比值失衡是HSP的独立危险因素。
■这项研究的结果表明，MEFV变异体E148Q与中国儿童的HSP易感性有关，并且该变异体的携带者可能具有更严重的临床表现和更大的炎症反应。E148Q和sST2/IL-33比值可能在HSP的发病机制中起重要作用。
