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Int J Mol Sci ; 25(14)2024 Jul 16.
Article de Anglais | MEDLINE | ID: mdl-39063019

RÉSUMÉ

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.


Sujet(s)
Prédisposition génétique à une maladie , Glutathione S-transferase pi , Glutathione transferase , , Polymorphisme de nucléotide simple , Adolescent , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Études cas-témoins , Fréquence d'allèle , Études d'associations génétiques , Génotype , Glutathione S-transferase pi/génétique , Glutathione transferase/génétique , /génétique , Immunoglobuline A/sang , Vascularite/génétique
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