PDF(Pubmed)
Abstract：
Endothelial cell injury is a hallmark of IgA vasculitis (IgAV), possibly associated with various factors, including oxidative stress. Certain single nucleotide polymorphisms (SNPs) of glutathione S-transferases (GST) genes have been shown to increase susceptibility to oxidative stress. The objective of our study was to evaluate the gene polymorphisms of GSTM1, GSTT1, GSTP1, and GSTA1 in patients with IgAV. DNA was extracted from the blood of 124 children with IgAV and 168 age-matched healthy controls. A higher frequency of the GSTM1 null genotype was observed in patients with gastrointestinal (GI) system involvement compared to those without GI system involvement (51.5% vs. 28.6%, p = 0.011). Additionally, the GSTM1 null genotype was less prevalent (30.8% vs. 69.2%, p = 0.032), while the GSTP1 Val/Val genotype was significantly more prevalent in patients who developed urogenital complications (scrotal swelling) during the course of the disease (60% vs. 40%, p = 0.039). This study is the first to suggest an association between GSTM1 and GSTP1 polymorphisms and various phenotypes observed during the clinical course of IgAV in the pediatric population. However, it was performed on a national and likely single ethnic cohort, too small for definitive conclusions, so larger studies are needed to confirm this association.
摘要：
内皮细胞损伤是IgA血管炎（IgAV）的标志，可能与各种因素有关，包括氧化应激。谷胱甘肽S-转移酶（GST）基因的某些单核苷酸多态性（SNP）已显示出增加对氧化应激的敏感性。我们研究的目的是评估IgAV患者GSTM1，GSTT1，GSTP1和GSTA1的基因多态性。从124名IgAV儿童和168名年龄匹配的健康对照者的血液中提取DNA。与没有胃肠道系统受累的患者相比，在胃肠道（GI）系统受累的患者中观察到GSTM1无效基因型的频率更高（51.5％vs.28.6%,p=0.011)。此外,GSTM1无效基因型较不普遍(30.8%与69.2%,p=0.032),而GSTP1Val/Val基因型在疾病过程中出现泌尿生殖系统并发症（阴囊肿胀）的患者中更为普遍（60％vs.40%,p=0.039)。这项研究首次表明GSTM1和GSTP1多态性与小儿IgAV临床过程中观察到的各种表型之间存在关联。然而,它是在一个国家和可能的单一种族群体上进行的，太小，无法得出明确的结论，所以需要更大的研究来证实这种关联。
