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

oleh: Ana Juras, Kristina Crkvenac Gornik, Martina Held, Mario Sestan, Daniel Turudic, Matej Sapina, Sasa Srsen, Sanda Huljev Frkovic, Marijan Frkovic, Alenka Gagro, Marija Jelusic

Format: Article
Diterbitkan: MDPI AG 2024-07-01

Deskripsi

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 (<i>GST</i>) genes have been shown to increase susceptibility to oxidative stress. The objective of our study was to evaluate the gene polymorphisms of <i>GSTM1</i>, <i>GSTT1, GSTP1</i>, and <i>GSTA1</i> 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 <i>GSTM1</i> null genotype was observed in patients with gastrointestinal (GI) system involvement compared to those without GI system involvement (51.5% vs. 28.6%, <i>p</i> = 0.011). Additionally, the <i>GSTM1</i> null genotype was less prevalent (30.8% vs. 69.2%, <i>p</i> = 0.032), while the <i>GSTP1</i> Val/Val genotype was significantly more prevalent in patients who developed urogenital complications (scrotal swelling) during the course of the disease (60% vs. 40%, <i>p</i> = 0.039). This study is the first to suggest an association between <i>GSTM1</i> and <i>GSTP1</i> 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.