International Journal of Molecular Sciences

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Prof. Dr. Marija Jelusic

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Guest Editor

Department of Paediatrics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia
Interests: pediatrics; rheumatology; vasculitis; SLE; immunology

Special Issue Information

Dear Colleagues,

Systemic vasculitides are a heterogeneous group of diseases of complex ethiopathogenesis and may involve complex interactions between various environmental and genetic factors. Noteworthy progress has been made in comprehending the genetic underpinnings of vasculitides in the past decade. However, the number of well-established risk loci for most vasculitides remains limited compared to autoimmune diseases benefiting from extensive sample collections. It is evident that genetics alone cannot fully account for the risk of vasculitis, as the disease's onset and progression are influenced by differential gene expression at the mRNA and protein levels. To gain a deeper understanding of the disease's onset mechanism, a comprehensive approach that integrates different "omics" techniques, such as proteomics and transcriptomics, is necessary. This integrated approach unveils novel molecular pathways and mechanisms associated with disease progression, thereby offering potential insights for the development of innovative therapeutic strategies. The identification of monogenic forms of vasculitides has reinforced the notion that vasculitides are a diverse group of disorders, each with their own distinct genetic characteristics. Hence, this Special Issue highlights the importance of adopting an integrated approach that combines genomics, proteomics, transcriptomics, and epigenetics to uncover the mechanisms of vasculitis pathogenesis.

Prof. Dr. Marija Jelušić
Guest Editor

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Keywords

systemic vasculitides
ethiopathogenesis
risk factors
genetics
genomics
proteomics
transcriptomics
epigenetics
molecular pathways
novel therapeutic strategies

Published Papers (2 papers)

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Research

14 pages, 1954 KiB

Open AccessArticle

Erythrocyte Glutathione S-Transferase Activity as a Sensitive Marker of Kidney Function Impairment in Children with IgA Vasculitis

by Marijan Frkovic, Ana Turcic, Alenka Gagro, Sasa Srsen, Sanda Huljev Frkovic, Dunja Rogic and Marija Jelusic

Int. J. Mol. Sci. 2024, 25(7), 3795; https://doi.org/10.3390/ijms25073795 - 28 Mar 2024

Viewed by 398

Abstract

IgA vasculitis (IgAV) is the most common childhood vasculitis. The main cause of morbidity and mortality in children with IgAV is nephritis (IgAVN), but the risk of its development, severity, and chronicity remain unclear. Erythrocyte glutathione S-transferase (e-GST) activity has been previously detected as a sensitive marker of kidney function impairment in several diseases. We spectrophotometrically assessed and correlated e-GST activity between 55 IgAV patients without nephritis (IgAVwN), 42 IgAVN patients, and 52 healthy controls. At disease onset, e-GST activity was significantly higher in IgAVN patients (median (interquartile range)) (5.7 U/gHb (4.4–7.5)) than in IgAVwN patients (3.1 U/gHb (2.2–4.2); p < 0.001), and controls (3.1 U/gHb (1.9–4.2); p < 0.001). Therewithal, there were no differences between the IgAVwN patients and controls (p = 0.837). e-GST activity was also significantly higher in the IgAVN patients than in the IgAVwN patients after 3 months (5.0 U/gHb (4.2–6.2) vs. 3.3 U/gHb (2.3–4.1); p < 0.001) and 6 months (4.2 U/gHb (3.2–5.8) vs. 3.3 U/gHb (2.1–4.1); p < 0.001) since the disease onset. Consistent correlations between e-GST activity and serum creatinine, estimated glomerular filtration rate (eGFR), and proteinuria levels were not detected. In conclusion, increased e-GST activity can serve as a subtle indicator of kidney function impairment in children with IgAV. Full article

(This article belongs to the Special Issue Forward in Vasculitis: Genetics and Beyond)

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12 pages, 254 KiB

Open AccessArticle

HLA Polymorphisms and Clinical Manifestations in IgA Vasculitis

by Martina Held, Katarina Stingl Jankovic, Mario Sestan, Matej Sapina, Nastasia Kifer, Sasa Srsen, Marijan Frkovic, Alenka Gagro, Zorana Grubic and Marija Jelusic

Int. J. Mol. Sci. 2024, 25(2), 882; https://doi.org/10.3390/ijms25020882 - 10 Jan 2024

Viewed by 689

Abstract

Studies concerning the genetic background of IgA vasculitis (IgAV), a small-vessel vasculitis occurring predominantly in childhood, have confirmed that the HLA-DRB1 gene showed a strong association with disease susceptibility. The objective was to investigate human leukocyte antigen (HLA) polymorphisms among Croatian patients with IgAV and their influence on disease susceptibility and clinical heterogeneity. Thus, 130 children with IgAV and 202 unrelated healthy individuals were enrolled in the study. Genomic DNA was extracted from whole peripheral blood, and HLA-A, -B, -DRB1 and -DQB1 gene polymorphism analysis was performed. HLA-A*03 (21.4% vs. 12.38%, p = 0.0092), HLA-B*37 (2.9% vs. 0.2%, p = 0.0054) and HLA-DRB1*12 (3.1% vs. 0.7%, p = 0.0216) alleles were significantly more frequent in IgAV patients than in controls. High-resolution typing revealed significantly higher frequency of HLA-DRB1*10:01 and -DRB1*11:03 among IgAV patients with gastrointestinal manifestations of the disease in comparison to controls (p = 0.0021 and p = 0.0301, respectively), while HLA-DRB1*14:01P occurred significantly more often in the group of patients who developed nephritis during the course of the disease (17.5% vs. 4.5%, p = 0.0006). Our results demonstrated that there is an association of HLA-A*03, HLA-B*37 and HLA-DRB1*12 alleles with susceptibility to IgAV in the examined Croatian pediatric population. Studies which aim to determine the HLA profile may contribute to the elucidation of the genetic background of autoimmune diseases, including IgAV. Full article

(This article belongs to the Special Issue Forward in Vasculitis: Genetics and Beyond)

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