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Genetics and Omics in Autoimmune Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 March 2026 | Viewed by 224

Special Issue Editor


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Guest Editor
Subdirección de Investigación Clínica, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City 14080, Mexico
Interests: autoimmune diseases; genetics; human variability; genomics

Special Issue Information

Dear Colleagues,

Autoimmune diseases (ADs) account for approximately 8% of human pathologies worldwide. ADs are generally multifactorial, influenced by genetic, environmental, hormonal, and immunological factors. In this group of pathologies, there is a loss of immune tolerance to self-antigens, leading to an impaired immune system. Consequently, immune cells remain constantly dysregulated and active, producing various types of autoantibodies and affecting different organs and/or systems.

Reporting genetic variations (such as SNVs and CNVs), mutations, mRNAs, microRNAs, lncRNAs, and other molecular factors associated with ADs can aid in identifying risk factors for these multifactorial diseases. In this Special Issue, “Genetics and Omics in Autoimmune Diseases”, we invite the submission of original research articles, short communications, and reviews on current and emerging concepts in ADs.

Topics of interest include genetics, genomics, transcriptomics, massive sequencing, etc., in ADs such as rheumatoid arthritis, systemic lupus erythematosus, Sjögren's syndrome, autoimmune thyroiditis, type 1 diabetes, multiple sclerosis, antiphospholipid syndrome, and IgG4-related disease, among others.

Dr. Julian Ramírez-Bello
Guest Editor

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Keywords

  • autoimmune diseases
  • genetics
  • genomics
  • omics
  • single-nucleotide variants
  • copy number variants
  • variation
  • susceptibility
  • mRNAs
  • microRNAs
  • long non-coding RNAs
  • masive sequencing

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Published Papers (1 paper)

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Research

22 pages, 2868 KB  
Article
Genetic and Functional Characterization of STAT4 in Rheumatoid Arthritis Patients with Distinct Disease Activity
by Karla Mayela Bravo-Villagra, Rocio Guadalupe Hernández-Ruíz, Alejandra Landeros-Sáenz, Christian Johana Baños-Hernández, Sergio Cerpa-Cruz, Samuel García-Arellano, José Francisco Muñoz-Valle and Andres López-Quintero
Int. J. Mol. Sci. 2025, 26(20), 10011; https://doi.org/10.3390/ijms262010011 - 15 Oct 2025
Abstract
Rheumatoid arthritis (RA) is characterized by chronic inflammation mediated by the JAK/STAT pathway. Variants in STAT4 have been associated with autoimmune susceptibility, but their functional role in RA remains unclear. The aim of this study was to genetically and functionally characterize STAT4 in [...] Read more.
Rheumatoid arthritis (RA) is characterized by chronic inflammation mediated by the JAK/STAT pathway. Variants in STAT4 have been associated with autoimmune susceptibility, but their functional role in RA remains unclear. The aim of this study was to genetically and functionally characterize STAT4 in RA patients with varying disease activity by analyzing two variants, mRNA expression, phosphorylated STAT4 (pSTAT4), and inflammatory cytokines (IL-12, IL-23, and IFN-γ). Sixty-three Mexican patients with RA were stratified into remission/low and moderate/high activity groups. Genotyping, STAT4 mRNA expression, pSTAT4 quantification, cytokine profiling, and treatment analyses were conducted. Patients receiving methotrexate, hydroxychloroquine, and sulfasalazine had higher IL-12 concentrations compared with those on other regimens. In remission/low activity patients, GC/GC carriers exhibited increased IL-12, PBMC levels, and anti-CCP antibodies, while GC/TT carriers in the moderate/high activity group showed distinct ESR values. Secondary analyses revealed that TT/TT carriers with STAT4 overexpression exhibited higher IFN-γ and IL-23 levels. IL-12 differences persisted among GC/GC carriers regardless of STAT4 expression status. In conclusion, these exploratory findings suggest potential interactions among STAT4 haplotypes, expression status, and treatment regimens influencing cytokine and inflammatory profiles in RA. However, due to the small subgroup sizes, the observed associations should be interpreted with caution and considered hypothesis-generating until validated in larger cohorts. Full article
(This article belongs to the Special Issue Genetics and Omics in Autoimmune Diseases)
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