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

Scientific paper - Original scientific paper

• Author: Ana Juras
• Author: Kristina Crkvenac Gornik
• Author: Martina Held
• Author: Mario Šestan
• Author: Daniel Turudić
• Author: Matej Šapina
• Author: Saša Sršen
• Author: Sanda Huljev Frković
• Author: Marijan Frković
• Author: Alenka Gagro
• Author: Marija Jelušić
• Author's institution: University of Zagreb; School of Medicine; (Department of Pediatrics)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract (english)

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.

• Keywords (english): Adolescent; Case-Control Studies; Child; Child, Preschool; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Glutathione S-Transferase pi / genetics; Glutathione Transferase / genetics; Humans; IgA Vasculitis / genetics; Immunoglobulin A / blood; Male; Polymorphism, Single Nucleotide; Vasculitis / genetics
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: International Journal of Molecular Sciences
• Numbering: vol. 25, no. 14, 7777
• e-ISSN: 1422-0067
• DOI: https://doi.org/10.3390/ijms25147777
• URN:NBN: urn:nbn:hr:105:623000
• Publication: 2024-07-16
• Project: Number: IP-2019-04-8822; Title (croatian): Histološki, klinički, laboratorijski i genski prediktori ishoda bolesnika s Henoch-Schönleinovom purpurom i nefritisom; Title (english): Histological, Clinical, Laboratory and Genetic Predictors of Outcome in Patients with Henoch-Schönlein Purpura and Nephritis; Acronym: PURPURAPREDICTORS; Leader: Marija Jelušić; Jurisdiction: Croatia; Funding stream: Research Projects
• Document URL: https://www.mdpi.com/1422-0067/25/14/7777
• Type of resource: Text
• Access conditions: Open access
• Created on: 2025-04-03 07:11:00