Genetic and Epigenetic Factors for Autoimmune Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Epigenomics".

Deadline for manuscript submissions: 25 October 2025 | Viewed by 647

Special Issue Editor


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Grupo de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico
Interests: immunogenetic; autoimmune diseases; systemic lupus erythematosus; rheumatoid arthritis; epigenetic; immunonutrition; personalized medicine
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Special Issue Information

Dear Colleagues,

Autoimmune diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) are characterized by an increased and dysregulated immune response against self-antigens, leading to cellular and tissue damage across multiple organs. Despite advances in the research, the current understanding of their etiopathogenesis remains limited. Genetic predisposition is considered a necessary but insufficient factor in the development of these conditions, accounting for only part of their onset and progression. This suggests that additional cofactors—such as epigenetic mechanisms—may play a critical role. Recent studies indicate that immune system dysregulation can be driven by non-heritable influences, involving a complex interplay of genetic and hormonal factors, immune system abnormalities, environmental exposures, and infections. While genetic susceptibility contributes to disease risk, epigenetic factors are being increasingly recognized as key players in the multifaceted development of autoimmunity. This Special Issue aims to explore the complex interplay between genetic and epigenetic factors in the development, progression, and clinical manifestation of diseases such as RA, SLE, and other autoimmune disorders. By bringing together cutting-edge original research and comprehensive reviews, this Issue seeks to provide a deeper understanding of how genetic predisposition and epigenetic modifications contribute to immune dysregulation and autoimmunity. We invite contributions that examine molecular mechanisms, identify novel genetic and epigenetic biomarkers, and highlight emerging therapeutic strategies that target the genetic and epigenetic pathways in autoimmune disorders.

Dr. Ulises De La Cruz-Mosso
Guest Editor

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Keywords

  • single nucleotide variants
  • polymorphism
  • mutations
  • microRNAs
  • HLA genes
  • cytokine gene
  • DNA methylation
  • rheumatoid arthritis
  • systemic lupus erythematosus
  • exposome

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Published Papers (1 paper)

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Research

14 pages, 569 KB  
Article
Interaction Between Vitamin D Metabolism Genetic Variants: Association with Hypovitaminosis D, Rheumatoid Arthritis, and Its Clinical Disease Activity
by Bertha Campos-López, Melissa Rivera-Escoto, Adolfo I. Ruiz-Ballesteros, Karen Pesqueda-Cendejas, Paulina E. Mora-García, Mónica R. Meza-Meza, Isela Parra-Rojas, José M. Moreno-Ortíz, Eneida Turiján-Espinoza, Juan M. Vargas-Morales, Sergio Cerpa-Cruz and Ulises De la Cruz-Mosso
Genes 2025, 16(8), 967; https://doi.org/10.3390/genes16080967 - 18 Aug 2025
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Abstract
Background: Hypovitaminosis D has been associated with worse rheumatoid arthritis (RA) manifestations. Notably, different genetic studies have reported that approximately 65% of hypovitaminosis D can be partially explained using the presence of single-nucleotide variants (SNVs) in key genes involved in its metabolism. This [...] Read more.
Background: Hypovitaminosis D has been associated with worse rheumatoid arthritis (RA) manifestations. Notably, different genetic studies have reported that approximately 65% of hypovitaminosis D can be partially explained using the presence of single-nucleotide variants (SNVs) in key genes involved in its metabolism. This study aimed to investigate the association and gene–gene interactions of four SNVs in vitamin D metabolism genes, rs10741657 (CYP2R1), rs10877012 (CYP27B1), rs4809959 (CYP24A1), and rs731236 TaqI (VDR), with hypovitaminosis D, RA, and its clinical disease activity in a Mexican mestizo population. Methods: This study was conducted among females: 204 RA patients and 204 control subjects (CS). Vitamin D serum levels (calcidiol) were analyzed using ELISA, SNVs through allelic discrimination with TaqMan® probes, and were analyzed using a multifactor dimensionality reduction (MDR) method. Results: MDR analysis suggested that GG and TT genotypes of rs10877012 (CYP27B1) were linked to lower calcidiol levels, while the CT and CC genotypes of rs731236 TaqI (VDR) were associated with increased RA susceptibility and higher disease activity. Logistic regression confirmed that the GG genotype of rs10877012 (CYP27B1) was associated with hypovitaminosis D (OR = 1.8; CI: 1.1–3.0; p = 0.01), and the CT genotype of rs731236 TaqI (VDR) with RA (OR = 1.9; CI: 1.2–2.9; p < 0.01) and high DAS28-ESR (OR = 3.6; CI: 1.3–10.7; p < 0.01). Conclusions: The GG genotype of rs10877012 CYP27B1 was associated with susceptibility to hypovitaminosis D, whereas the CT genotype of rs731236 TaqI VDR confers susceptibility to RA and high clinical disease activity in the Mexican mestizo population. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Factors for Autoimmune Diseases)
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