Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis

IF 4.9 2区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY International Journal of Molecular Sciences Pub Date : 2024-07-16 DOI:10.3390/ijms25147777
Ana Juras, Kristina Crkvenac Gornik, M. Held, M. Šestan, D. Turudic, M. Šapina, S. Srsen, Sanda Huljev Frković, M. Frković, A. Gagro, M. Jelušić
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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.
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谷胱甘肽转移酶 M1、T1、P1 和 A1 基因多态性与 IgA 血管炎易感性的关系
内皮细胞损伤是 IgA 血管炎(IgAV)的一个特征,可能与包括氧化应激在内的各种因素有关。谷胱甘肽 S-转移酶(GST)基因的某些单核苷酸多态性(SNPs)已被证明会增加对氧化应激的易感性。我们的研究旨在评估 IgAV 患者中 GSTM1、GSTT1、GSTP1 和 GSTA1 的基因多态性。我们从 124 名 IgAV 患儿和 168 名年龄匹配的健康对照者的血液中提取了 DNA。与未受累于胃肠道系统的患者相比,受累于胃肠道系统的患者中出现 GSTM1 空基因型的频率更高(51.5% 对 28.6%,P = 0.011)。此外,GSTM1 空基因型的发病率较低(30.8% 对 69.2%,p = 0.032),而 GSTP1 Val/Val 基因型在病程中出现泌尿生殖系统并发症(阴囊肿胀)的患者中发病率明显更高(60% 对 40%,p = 0.039)。这项研究首次提出了 GSTM1 和 GSTP1 多态性与儿童 IgAV 临床病程中观察到的各种表型之间的关联。然而,这项研究是在全国范围内进行的,而且可能是在单一种族的队列中进行的,规模太小,无法得出明确的结论,因此需要更大规模的研究来证实这种关联。
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来源期刊
International Journal of Molecular Sciences
International Journal of Molecular Sciences Chemistry-Organic Chemistry
CiteScore
8.10
自引率
10.70%
发文量
13472
审稿时长
17.49 days
期刊介绍: The International Journal of Molecular Sciences (ISSN 1422-0067) provides an advanced forum for chemistry, molecular physics (chemical physics and physical chemistry) and molecular biology. It publishes research articles, reviews, communications and short notes. Our aim is to encourage scientists to publish their theoretical and experimental results in as much detail as possible. Therefore, there is no restriction on the length of the papers or the number of electronics supplementary files. For articles with computational results, the full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material (including animated pictures, videos, interactive Excel sheets, software executables and others).
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