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

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• Autor: Ana Juras
• Autor: Kristina Crkvenac Gornik
• Autor: Martina Held
• Autor: Mario Šestan
• Autor: Daniel Turudić
• Autor: Matej Šapina
• Autor: Saša Sršen
• Autor: Sanda Huljev Frković
• Autor: Marijan Frković
• Autor: Alenka Gagro
• Autor: Marija Jelušić
• Autorova ustanova: Sveučilište u Zagrebu; Medicinski fakultet; (KATEDRA ZA PEDIJATRIJU)
• Znanstveno / umjetničko područje, polje i grana: BIOMEDICINA I ZDRAVSTVO; Kliničke medicinske znanosti; Pedijatrija

Sažetak (engleski)

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.

• Ključne riječi (engleski): 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
• Jezik: engleski
• Vrsta publikacije: Znanstveni rad - Izvorni znanstveni rad
• Status objave: Objavljen
• Vrsta recenzije: Recenziran
• Verzija publikacije: Objavljena verzija rada (izdavačev PDF)
• Naslov časopisa: International Journal of Molecular Sciences
• Brojčani podaci: vol. 25, br. 14, 7777
• e-ISSN: 1422-0067
• DOI: https://doi.org/10.3390/ijms25147777
• URN:NBN: urn:nbn:hr:105:623000
• Datum objave publikacije: 2024-07-16
• Projekt: Šifra: IP-2019-04-8822; Naziv (hrvatski): Histološki, klinički, laboratorijski i genski prediktori ishoda bolesnika s Henoch-Schönleinovom purpurom i nefritisom; Naziv (engleski): Histological, Clinical, Laboratory and Genetic Predictors of Outcome in Patients with Henoch-Schönlein Purpura and Nephritis; Kratica: PURPURAPREDICTORS; Voditelj: Marija Jelušić; Pravna nadležnost: Hrvatska; Financijer: Hrvatska zaklada za znanost; Linija financiranja: Research Projects
• URL dokumenta: https://www.mdpi.com/1422-0067/25/14/7777
• Vrsta resursa: Tekst
• Prava pristupa: Otvoreni pristup
• Datum i vrijeme pohrane: 2025-04-03 07:11:00