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Journal Article Epublish 3 citations

PubMed: 38003490 DOI: 10.3390/ijms242216300

Frequency Evaluation of the -174G>C Polymorphism and Mutations as Disease Modifiers in Patients Affected by Systemic Lupus Erythematosus and Rheumatoid Arthritis.

Int J Mol Sci 24(22)

Authors: Mattia Carini, Micaela Fredi, Ilaria Cavazzana, Roberto Bresciani, Fabiana Ferrari, Eugenio Monti, Franco Franceschini, Giorgio Biasiotto

Affiliations

  • Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Highly Specialized Laboratory, ASST Spedali Civili di Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy.
  • Department of Clinical and Experimental Sciences, University of Brescia, 25123 Brescia, Italy.
  • Rheumatology and Clinical Immunology Unit, ASST Spedali Civili di Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy.
  • Pediatrics, Mother's and Baby's Health Department, Poliambulanza Foundation Hospital Insitute, 25124 Brescia, Italy.

Abstract

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.

MeSH

Immunity, Lupus Erythematosus, Systemic, Autoimmune Diseases, Mutation, Genes, Arthritis, Rheumatoid, Promoter Regions, Genetic

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