Department of Laboratory Diagnostics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia.
Department of Paediatrics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia.
Int J Mol Sci. 2024 Jul 16;25(14):7777. doi: 10.3390/ijms25147777.
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 () genes have been shown to increase susceptibility to oxidative stress. The objective of our study was to evaluate the gene polymorphisms of , , and 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 null genotype was observed in patients with gastrointestinal (GI) system involvement compared to those without GI system involvement (51.5% vs. 28.6%, = 0.011). Additionally, the null genotype was less prevalent (30.8% vs. 69.2%, = 0.032), while the Val/Val genotype was significantly more prevalent in patients who developed urogenital complications (scrotal swelling) during the course of the disease (60% vs. 40%, = 0.039). This study is the first to suggest an association between and 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.
血管内皮细胞损伤是 IgA 血管炎（IgAV）的一个标志，可能与包括氧化应激在内的多种因素有关。某些谷胱甘肽 S-转移酶（GST）基因的单核苷酸多态性（SNPs）已被证明可增加对氧化应激的易感性。我们的研究目的是评估 IgAV 患者中 GST 基因的 、 和 多态性。从 124 例 IgAV 患儿和 168 名年龄匹配的健康对照者的血液中提取 DNA。与无胃肠道（GI）系统受累者相比，有 GI 系统受累者 GST null 基因型的频率更高（51.5% vs. 28.6%， = 0.011）。此外，GST null 基因型的发生率较低（30.8% vs. 69.2%， = 0.032），而在疾病过程中发生泌尿生殖并发症（阴囊肿胀）的患者中 GST Val/Val 基因型更为常见（60% vs. 40%， = 0.039）。这项研究首次表明 GST 和 多态性与儿科人群 IgAV 临床病程中观察到的各种表型之间存在关联。然而，该研究是在全国范围内进行的，可能是单一的种族队列，样本量太小，无法得出明确的结论，因此需要更大的研究来证实这种关联。
