Autoimmune diseases are generally characterized by a multifactorial etiology and are often associated with a genetic predisposition. Both iron metabolism and the inflammatory cytokine system have been shown to play a pivotal role in the dysregulation of the immune response in many different autoimmune conditions, rheumatologic diseases included. The purpose of this work was to analyze the frequency of mutations altering the expression of IL-6 or influencing iron metabolism in patients affected by autoimmune diseases such as Rheumatoid Arthritis (RA) and Systemic Lupus Erythematosus (SLE). In this study, 144 patients were enrolled: 77 and 67 patients were affected by RA and SLE, respectively. In these cohorts, the frequency of the polymorphism -174G>C located in the gene promoter was tested. Moreover, the frequencies of the three gene variations associated with iron overload were analyzed: p.His63Asp, p.Ser65Cys and p.Cys282Tyr. The two mutations p.His63Asp and p.Ser65Cys in the gene did not reach statistical significance in any of the comparisons, regardless of the statistical model, cohorts of patients and control populations analyzed. The frequencies of the p.Cys282Tyr mutation and the polymorphism -174G>C were found to be overall significantly decreased in RA and SLE patients when the Dominant model and Allele contrast were adopted with both the Odds Ratio and Chi-square. Although further investigation is needed, the examination of the frequencies of the -174G>C promoter polymorphism and mutations may add some valuable information on the interplay linking iron metabolism, inflammation and immunity in autoimmune diseases such as SLE and RA.
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http://dx.doi.org/10.3390/ijms242216300 | DOI Listing |
BMC Med Inform Decis Mak
January 2025
Department of Pharmacy, Hangzhou Third People's Hospital, Hangzhou Third Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, China.
Background: Alopecia areata (AA) is a common non-scarring hair loss disorder associated with autoimmune conditions. However, the pathobiology of AA is not well understood, and there is no targeted therapy available for AA. METHODS: In this study, differential gene expression analysis, immune status assessment, weighted correlation network analysis (WGCNA), and functional enrichment analysis were performed to identify shared genes associated with both immunological response and AA.
View Article and Find Full Text PDFBMC Nephrol
January 2025
Renal Department and Nephrology Institute, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 610072, China.
Background: The factors influencing diffuse crescentic glomerulonephritis renal survival and prognosis remain uncertain. Additionally, there's no literature on the clinical outcomes of IgA nephropathy, lupus nephritis, and IgA vasculitis nephritis in type II patients.
Methods: This study retrospectively examined 107 patients diagnosed with diffuse crescentic glomerulonephritis through biopsy.
Commun Biol
January 2025
Department of Medicinal Chemistry, School of Pharmaceutical Sciences, Wenzhou Medical University, Wenzhou, China.
Protein citrullination modification plays a pivotal role in the pathogenesis of rheumatoid arthritis (RA), and anti-citrullinated protein antibodies (ACPAs) are extensively employed for clinical diagnosis of RA. However, there remains limited understanding regarding specific citrullinated proteins and their implications in the progression of RA. In this study, we screen and verify insulin-like growth factor-2 mRNA binding protein 1 (IGF2BP1) as a novel citrullinated protein with significantly elevated citrullinated level in RA.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Radiology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, China.
The conventional statistical approach for analyzing resting state functional MRI (rs-fMRI) data struggles to accurately distinguish between patients with multiple sclerosis (MS) and those with neuromyelitis optic spectrum disorders (NMOSD), highlighting the need for improved diagnostic efficacy. In this study, multilevel functional metrics including resting state functional connectivity, amplitude of low frequency fluctuation (ALFF), and regional homogeneity (ReHo) were calculated and extracted from 116 regions of interest in the anatomical automatic labeling atlas. Subsequently, classifiers were developed using different combinations of these selected features to distinguish between MS and NMOSD.
View Article and Find Full Text PDFLupus Sci Med
January 2025
Medicine, University of Washington, Seattle, Washington, USA.
Objectives: To study neutrophil gelatinase-associated lipocalin (NGAL) levels in peripheral blood in SLE, and to propose a mechanism by which neutrophils secrete NGAL on stimulation with immune complexes (IC).
Methods: NGAL was measured by ELISA in two independent Swedish SLE cohorts acting as exploratory and validation cohort (n=124 and n=308, respectively), disease controls (n=38) and healthy controls (n=77). NGAL levels were measured in supernatant from IC-stimulated neutrophils in the presence or absence of a toll-like receptor 8 inhibitor (TLR8i).
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