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Role of HLA (Human Leucocyte Antigen) in Human Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 January 2026 | Viewed by 1561

Special Issue Editor


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Guest Editor
Department of Basic Health Sciences (DBS), Laboratory of Immunogenetics at the State University of Maringá (LIG-UEM), Maringá, Brazil
Interests: HLA; immune response genes; molecular markers in hematology and oncologia

Special Issue Information

Dear Colleagues,

The scope of this Special Issue, titled "Role of HLA (Human Leucocyte Antigen) in Human Diseases", for the International Journal of Molecular Sciences (IJMS) should focus on exploring the molecular mechanisms and biomolecular aspects of HLA in the context of various human diseases. Given that the IJMS is a molecular science journal, this Special Issue should emphasize studies that bridge the clinical relevance of HLA with experimental data, molecular analyses, and in vitro or in vivo models.

Key Areas to Consider

  1. Molecular Mechanisms of HLA in Disease
    • Studies that explore how HLA molecules influence immune responses at the molecular level.
    • Investigations into the role of HLA in autoimmune diseases, cancers, and infectious diseases, emphasizing the molecular interactions, signaling pathways, and genetic factors involved.
    • Mechanisms of HLA-mediated antigen presentation and how they influence the immune system in various pathological conditions.
  2. HLA Genotype and Disease Susceptibility
    • Biomolecular studies examining the relationship between specific HLA genotypes and susceptibility to diseases (e.g., autoimmune disorders, viral infections, or transplant rejection).
    • Molecular characterization of HLA gene variants and their functional implications in disease predisposition.
  3. HLA in Cancer Immunology
    • Molecular studies exploring how HLA plays a role in tumor immune evasion, antigen presentation, and cancer immunotherapy.
    • Research into the interaction between HLA molecules and immune checkpoint inhibitors, and their potential in cancer treatment.
  4. HLA and Infectious Diseases
    • Exploration of HLA-mediated immune responses to infections (e.g., HIV, hepatitis, and tuberculosis), with an emphasis on the molecular interactions between HLA molecules and pathogens.
    • Studies investigating how HLA influences the immune control of infections at the molecular level.
  5. Biomolecular Approaches to HLA-based Diagnostics and Therapies
    • Development and validation of molecular tools and biomarkers based on HLA for early diagnosis or disease prognosis.
    • Novel HLA-based therapeutic strategies, including personalized medicine and targeted therapies.
  6. Experimental Models and Techniques
    • Molecular studies using cell-based or animal models to dissect HLA function and its role in disease mechanisms.
    • Use of molecular biology techniques (e.g., CRISPR, RNA sequencing, and proteomics) to study the function and regulation of HLA molecules in disease models.
  7. HLA and Immune Regulation
    • Insights into how HLA molecules regulate immune tolerance, autoimmunity, and inflammatory responses at the molecular level.
    • Molecular studies of HLA's involvement in immune checkpoint pathways and its implications for immunotherapy.

Exclusion Criteria

  • Pure clinical studies: While clinical data are relevant, studies that do not integrate molecular or experimental approaches are not suitable for this Special Issue.
  • Pure model studies without biomolecular analysis: Studies based purely on model organisms or theoretical aspects of HLA without biomolecular experiments should be avoided, unless they explicitly include molecular or experimental data (e.g., gene editing, proteomics, or molecular profiling).

This Special Issue will be dedicated to molecular and biomolecular studies that provide new insights into the functions of HLA in human diseases, focusing on the underlying mechanisms, diagnostic potential, and therapeutic applications. Studies should integrate clinical relevance with molecular experiments to ensure alignment with the scope of the International Journal of Molecular Sciences.

Prof. Dr. Jeane Eliete Laguila Visentainer
Guest Editor

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 100 words) can be sent to the Editorial Office for announcement on this website.

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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • HLA (human leukocyte antigen)
  • molecular immunology
  • autoimmune diseases
  • HLA genetics
  • antigen presentation
  • HLA and cancer
  • immunotherapy and HLA
  • immune responses
  • immunity and HLA
  • infectious diseases and HLA
  • innate and adaptive immunity
  • organ transplantation and HLA
  • HLA and immune responses
  • HLA genotypes and susceptibility
  • autoimmunity and HLA
  • HLA and infectious diseases
  • HLA and personalized therapies
  • molecular mechanisms of HLA
  • HLA mutations
  • experimental models of HLA
  • HLA and inflammation
  • HLA biomarkers
  • HLA and immunosuppression
  • immune tolerance and HLA
  • immune evasion by HLA

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Published Papers (2 papers)

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Research

29 pages, 5769 KiB  
Article
Genetic Complexity in Spondyloarthritis: Contributions of HLA-B Alleles Beyond HLA-B*27 in Romanian Patients
by Ruxandra-Elena Nagit, Mariana Pavel-Tanasa, Corina Cianga, Elena Rezus and Petru Cianga
Int. J. Mol. Sci. 2025, 26(15), 7617; https://doi.org/10.3390/ijms26157617 - 6 Aug 2025
Abstract
This study examined the distribution and disease associations of non-HLA-B*27 HLA-B alleles in Romanian spondyloarthritis (SpA) patients, aiming to address the underrepresentation of Eastern European populations in immunogenetic research. Methods: We analyzed 263 HLA-B*27-negative patients from Northeastern Romania fulfilling ASAS criteria. HLA-B genotyping [...] Read more.
This study examined the distribution and disease associations of non-HLA-B*27 HLA-B alleles in Romanian spondyloarthritis (SpA) patients, aiming to address the underrepresentation of Eastern European populations in immunogenetic research. Methods: We analyzed 263 HLA-B*27-negative patients from Northeastern Romania fulfilling ASAS criteria. HLA-B genotyping was performed at two-digit resolution, and allele distributions were compared with two Romanian HLA-B*27-negative control groups (n = 335 and n = 1705 cases), using chi-square testing and logistic regression. Compared to controls, HLA-B*47 (p = 0.0007) and HLA-B*54 (p = 0.0013) were significantly enriched, while HLA-B*40 was underrepresented (p = 0.0287). Notably, HLA-B*54 was observed exclusively in axial SpA. Within the cohort, both HLA-B*13 and HLA-B*57 alleles were associated with psoriasis, while HLA-B*37 and HLA-B*41 alleles were clustered within the reactive arthritis group. The HLA-B*35 and HLA-B*18 alleles were the most frequently observed alleles across most clinical phenotypes. When comparing the frequency of HLA-B associations, the most common genotypes among SpA patients were B*08-B*18, B*13-B*35, and B*35-B*51. Notably, B*08-B*18 was more frequent in patients with radiographic sacroiliitis grade ≥ 2, while B*35-B*51 was more frequent in those with confirmed systemic inflammation, as indicated by elevated CRP or ESR levels. Analysis of peptide-binding patterns revealed a cluster of risk alleles, HLA-B*08, B*18, B*35, B*40, and B*54, sharing similar features, distinct from the canonical profile of B*27. These findings highlight the contribution of non-B*27 HLA-B alleles to SpA susceptibility in an Eastern European population and support the notion that HLA-B*27-negative SpA may represent a distinct clinical and immunological entity, driven by alternative pathogenic mechanisms. They also emphasize the importance of population-specific immunogenetic profiling and support expanding genetic characterization in HLA-B*27-negative patients. Full article
(This article belongs to the Special Issue Role of HLA (Human Leucocyte Antigen) in Human Diseases)
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15 pages, 1398 KiB  
Article
Influence of HLA Class I and II Polymorphisms on COVID-19 Severity in a South Brazilian Population
by Sergio Grava, Matheus Braga, Victor Hugo de Souza, Afonso Carrasco Pepineli, Aléia Harumi Uchibaba Yamanaka, Christiane Maria Ayo, Joana Maira Valentini Zacarias, Andréa Name Colado Simão, Larissa Danielle Bahls Pinto, Quirino Alves de Lima Neto and Jeane Eliete Laguila Visentainer
Int. J. Mol. Sci. 2025, 26(11), 5341; https://doi.org/10.3390/ijms26115341 - 2 Jun 2025
Viewed by 1218
Abstract
The high variability of human leukocyte antigen (HLA) genes results in each molecule having distinct antigenic peptide binding capacities, potentially influencing the immune response to SARS-CoV-2. This study aimed to investigate associations between HLA class I (A, B) [...] Read more.
The high variability of human leukocyte antigen (HLA) genes results in each molecule having distinct antigenic peptide binding capacities, potentially influencing the immune response to SARS-CoV-2. This study aimed to investigate associations between HLA class I (A, B) and class II (DRB1) polymorphisms and COVID-19 severity in a South Brazilian population, and to evaluate the binding affinity of alleles to viral peptides. A cross-sectional study included 503 unvaccinated patients with RT-qPCR-confirmed COVID-19: 145 non-severe, 129 severe, and 229 critical. HLA typing was performed using PCR-SSO and Luminex™ technology. The DRB1*11 allelic group was significantly associated with protection against severe and critical cases, while DRB1*15 was associated with increased risk; both remained significant after Bonferroni correction. Other allelic groups were associated with disease outcomes but lost significance after correction: B*49 and B*08 (risk); and B*37, B*50, and A*03 (protection). In silico analysis revealed that the DRB1*15 allele group showed a higher proportion of strong binders, mostly from non-structural proteins, while DRB1*11:01 binders, though fewer in number, were concentrated in the M protein. These results suggest functional differences in antigen presentation and reinforce the relevance of class II HLA, particularly DRB1, in modulating COVID-19 severity. Full article
(This article belongs to the Special Issue Role of HLA (Human Leucocyte Antigen) in Human Diseases)
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