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Pharmacogenomics and Pharmacoepigenomics in Autoimmune Diseases: How Close We Are...
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Pharmacogenomics and Pharmacoepigenomics in Autoimmune Diseases: How Close We Are to Personalised Medicine

A Special Issue of Genes (ISSN 2073-4425) belonging to the section "Pharmacogenetics".

Deadline for manuscript submissions: 25 October 2026 | Viewed by 3217

Editors

Dr. Yiannis Vasilopoulos

E-Mail Website
Guest Editor
Laboratory of Genetics, Section of Genetics, Cell Biology and Development, Department of Biology, University of Patras, 26504 Patras, Greece
Interests: multifactorial diseases; psoriasis; atopic dermatitis; rheumatoid arthritis; pharmacogenetics/pharmacogenomics; molecular biology and functional analysis of genes
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Ioannis S. Vizirianakis

E-Mail Website
Guest Editor
1. Laboratory of Pharmacology, School of Pharmacy, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
2. Department of Health Sciences, School of Life and Health Sciences, University of Nicosia, 1700 Nicosia, Cyprus
Interests: pharmacogenomics; molecular pharmacology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Recent advances in genomics and epigenomics have significantly enhanced our understanding of autoimmune diseases. Genome-wide association studies and next-generation sequencing have uncovered numerous genetic loci associated with disease susceptibility and treatment response. However, the modest proportion of explained heritability highlights the importance of rare variants, gene–gene interactions, and non-coding regulatory elements. Beyond genetics, pharmacoepigenomic studies reveal how DNA methylation, histone modifications, and non-coding RNAs modulate drug metabolism and immune regulation, influencing both therapeutic efficacy and adverse reactions. Integrating these molecular insights with clinical phenotypes enables a more refined stratification of patients, facilitating the transition from population-based treatment to individualized care.

In this Special Issue entitled "Pharmacogenomics and Pharmacoepigenomics in Autoimmune Diseases: How Close We Are to Personalised Medicine", we invite contributions that explore genetic and epigenetic determinants of drug response, functional characterization of pharmacogenomic loci, and multi-omic approaches to therapeutic optimization. By combining pharmacogenetic, transcriptomic, and epigenomic data, this collection aims to understand the molecular landscape governing drug efficacy and toxicity, ultimately advancing the implementation of precision medicine in autoimmune disorders.

Dr. Yiannis Vasilopoulos
Prof. Dr. Ioannis S. Vizirianakis
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pharmacogenomics
  • pharmacoepigenomics
  • drug efficacy
  • drug toxicity
  • molecular pharmacology
  • autoimmune diseases

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Published Papers (2 papers)

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Research

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12 pages, 657 KB  
Article
Pharmacogenetic Analysis of Variants in IL-6 Signaling and Response to Modern Therapeutic Approaches in Greek Patients with Atopic Dermatitis
by Dimitra Triantafillidi, Vasiliki Tziouvara, Alexandros Pontikas, Adam Akritidis, Charalabos Antonatos, Aikaterini Zacharopoulou, Aikaterini Tsiogka, Ileana-Afroditi Kleidona, Katerina Grafanaki, Alexandra Chrysospathi, Niki Ntavari, Elli Kampra, Sophia Georgiou, Efterpi Zafiriou, Stamatis Gregoriou and Yiannis Vasilopoulos
Genes 2026, 17(5), 575; https://doi.org/10.3390/genes17050575 - 18 May 2026
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Abstract
Background/Objectives: We conducted the first pharmacogenetic investigation of atopic dermatitis in a cohort of 43 Greek patients, focusing on key variants within the IL6/JAK/STAT signaling axis, a pathway central to inflammation and therapeutic targeting. Methods: Patients receiving dupilumab, JAK inhibitors, or topical corticosteroids [...] Read more.
Background/Objectives: We conducted the first pharmacogenetic investigation of atopic dermatitis in a cohort of 43 Greek patients, focusing on key variants within the IL6/JAK/STAT signaling axis, a pathway central to inflammation and therapeutic targeting. Methods: Patients receiving dupilumab, JAK inhibitors, or topical corticosteroids were prospectively evaluated, with treatment response assessed by changes in the Eczema Area and Severity Index over four months. Targeted genotyping of IL6R rs2228145 A>C, JAK1 rs2780815 T>G, and TRAF3 rs12147254 G>A were performed using PCR-RFLP. Results: Across the full cohort, no robust pharmacogenetic effects were detected, while baseline disease severity was the strongest predictor of absolute clinical improvement. However, stratified analyses revealed a significant association between the IL6R rs2228145 minor allele and reduced upadacitinib response (p-value = 0.026). Consistently, the same variant demonstrated a nominal association with reduced likelihood of achieving ≥75% improvement (p = 0.065). Conclusions: Although limited by sample size, these findings suggest potential treatment-specific pharmacogenetic effects within the IL6 pathway, supporting further investigation in larger cohorts to inform personalized therapeutic strategies in eczema. Full article
(This article belongs to the Special Issue Pharmacogenomics and Pharmacoepigenomics in Autoimmune Diseases: How Close We Are to Personalised Medicine)
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Review

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15 pages, 525 KB  
Review
The Role of Pharmacogenetics in the Effectiveness of Rheumatoid Arthritis Treatment with Leflunomide
by Paulina Plewa, Anna Jędrasiak, Oliwia Jerzyńska, Aleksandra Dach, Maria Domańska and Andrzej Pawlik
Genes 2026, 17(5), 573; https://doi.org/10.3390/genes17050573 - 18 May 2026
Cited by 1 | Viewed by 779
Abstract
This article discusses rheumatoid arthritis (RA) as a chronic, systemic autoimmune disease leading to progressive joint damage and multi-organ complications. The complex pathogenesis of the disease is presented, involving the interaction of environmental, genetic, and immunological factors, including the role of autoantibodies and [...] Read more.
This article discusses rheumatoid arthritis (RA) as a chronic, systemic autoimmune disease leading to progressive joint damage and multi-organ complications. The complex pathogenesis of the disease is presented, involving the interaction of environmental, genetic, and immunological factors, including the role of autoantibodies and proinflammatory cytokines. Particular attention is paid to leflunomide, a disease-modifying antirheumatic drug (DMARD), which primarily works by inhibiting the DHODH enzyme, leading to reduced T and B cell proliferation. The additional anti-inflammatory properties of the drug’s active metabolite, teriflunomide, and its impact on signaling pathways related to the immune response are also discussed. This article examines the variability in patient responses to leflunomide treatment in terms of both efficacy and toxicity, with particular emphasis on the potential role of pharmacogenetic factors. It was pointed out that polymorphisms in genes related to drug metabolism, transport, and mechanism of action may influence the pharmacokinetics and safety of the therapy. It was also emphasized that the available data are primarily derived from observational studies and small cohorts, and the results are often inconsistent. Although some genetic variants and plasma teriflunomide concentrations show potential as predictors of treatment response, the current level of evidence does not support the routine use of pharmacogenetic testing in clinical practice. The article emphasizes that the pharmacogenetics of leflunomide represents a promising, yet still exploratory, avenue of research in the context of personalized RA therapy. It emphasizes the need for larger, well-designed clinical trials and the development of standardized guidelines, which would be necessary before the potential implementation of such strategies in routine clinical practice. Full article
(This article belongs to the Special Issue Pharmacogenomics and Pharmacoepigenomics in Autoimmune Diseases: How Close We Are to Personalised Medicine)
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