Genetic and Epigenetic Insights in Autoimmune Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 20 May 2026 | Viewed by 43
Special Issue Editors
Interests: genetics of multifactorial disorders; pharmacogenetics; miRNA variability
Special Issues, Collections and Topics in MDPI journals
Interests: genetics of multifactorial disorders; pharmacogenetics; epigenetics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Autoimmune diseases represent a major challenge for modern medicine due to their complex and heterogeneous nature. Their etiology arises from a dynamic interplay between genetic predisposition, epigenetic regulation, and environmental triggers, including infections, diet, and microbiome alterations. The remarkable clinical variability observed among patients, alongside differences in prognosis and therapeutic response, highlights the need for a deeper understanding of the molecular mechanisms that drive autoimmune pathogenesis.
While genome-wide association studies (GWASs) have identified numerous genetic variants associated with autoimmune disease susceptibility, it has become increasingly evident that epigenetic mechanisms—such as DNA methylation, histone modifications, and non-coding RNAs—play a pivotal role in modulating immune tolerance, inflammation, and gene expression in immune cells. Recent research has revealed widespread and disease-specific epigenetic alterations across autoimmune disorders, including systemic lupus erythematosus, rheumatoid arthritis, and multiple sclerosis. However, the precise functional consequences of these epigenetic changes and their dynamic interaction with genetic background and environmental exposures remain incompletely understood.
The integration of genomics and epigenomics, powered by advances in high-throughput sequencing technologies and computational biology, now provides unprecedented opportunities to decode the intricate molecular architecture of autoimmunity. In this context, systems biology approaches are essential for modeling the complex networks of interactions among genes, epigenetic regulators, and environmental factors that drive immune dysregulation. This integrated perspective is crucial for identifying novel biomarkers, predicting disease prognosis and developing personalized therapeutic strategies.
Moreover, the application of artificial intelligence and machine learning has emerged as a new tool for analyzing large-scale, multi-omics datasets, uncovering hidden patterns and predictive features that contribute to autoimmune disease onset and evolution.
Therefore, this Special Issue aims to provide a platform for original research and comprehensive reviews that enhance our understanding of the multifaceted roles of genetics and epigenetics in autoimmune diseases, with the ultimate goal of advancing precision diagnostics and tailored therapies. We particularly welcome contributions that focus on the following:
- Exploring the relationship between genetic variants and epigenetic modifications in autoimmune disease susceptibility and progression;
- Investigating the functional impact of specific epigenetic alterations on immune cell phenotypes and treatment responses;
- Utilizing multi-omics approaches to elucidate the molecular pathways driving autoimmune dysregulation;
- Applying systems biology and computational modeling to predict autoimmune risk and identify novel therapeutic targets;
- Assessing the translational potential of genetic and epigenetic discoveries for personalized medicine in autoimmunity.
Dr. Cinzia Ciccacci
Dr. Andrea Latini
Guest Editors
Manuscript Submission Information
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Keywords
- autoimmune disorders
- genetic factors
- epigenetic factors
- polymorphisms
- gene–gene interactions
- gene–miRNA interactions
- miRNA
- methylation state
- genetic susceptibility
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