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

Author:

Juras Ana1,Crkvenac Gornik Kristina1,Held Martina2ORCID,Sestan Mario2ORCID,Turudic Daniel2ORCID,Sapina Matej3,Srsen Sasa4ORCID,Huljev Frkovic Sanda2,Frkovic Marijan2ORCID,Gagro Alenka56,Jelusic Marija2ORCID

Affiliation:

1. Department of Laboratory Diagnostics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia

2. Department of Paediatrics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia

3. Department of Paediatrics, University Hospital Centre Osijek, Medical Faculty Osijek, Josip Juraj Strossmayer University of Osijek, 31 000 Osijek, Croatia

4. Department of Paediatrics, University of Split School of Medicine, University Hospital Centre Split, 21 000 Split, Croatia

5. Medical Faculty Osijek, Josip Juraj Strossmayer University of Osijek, 31 000 Osijek, Croatia

6. Department of Paediatrics, Children’s Hospital Zagreb, 10 000 Zagreb, Croatia

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.

Funder

Croatian Science Foundation

Publisher

MDPI AG

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