ijms-logo

Journal Browser

Journal Browser

Molecular Genetics of Human Leucocyte Antigen in 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 December 2024 | Viewed by 2962

Special Issue Editor


E-Mail Website
Guest Editor
Department of Immunology, Medical School, University Complutense, 28020 Madrid, Spain
Interests: HLA; immunology; HLA genetics and pharmacogenetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Classical HLA (Human Leukocyte Antigen) is the Major Histocompatibility Complex (MHC) present in humans. The association between HLA genes and diseases has been studied since 1967, and no definite pathogenic mechanisms have been established yet. The study of HLA-G immune modulation gene (and also of -E and -F) has began in the same arduous way, where statistics and allele association are the trending subjects, with the same few results being obtained by HLA classical genes, i.e., no pathogenesis has been discovered after several years of tremendous research efforts. Thus, we believe that it is necessary to follow different research methodologies: (1) to approach this problem based on how evolution has maintained together a cluster of immune-related genes (the MHC) in a relatively short chromosome area from the evolution of amniotes to humans, i.e., immune-regulatory genes (MHC-G, -E and -F), adaptive immune classical class I and II genes, non-adaptive immune genes like C2, C4 and Bf, and (2) to propose the allelism of complement factors for studying MHC complement genes, complotypes, and extended MHC haplotypes, which may be more informative that single MHC marker studies.

This Special Issue of the International Journal of Molecular Sciences on “Molecular Genetics of Human Leucocyte Antigen in Diseases”, assisted by Profs Ignacio Juarez (Universidad Complutense de Madrid, Madrid, Spain) and Fabio Suarez-Trujillo(Universidad Complutense de Madrid, Madrid, Spain), aims at providing new approaches to decipher the cause of HLA/MHC and addressing disease association problems. Data on molecular mechanisms or pathophysiology are essential, and papers that only contain clinical trials/data will not be accepted.

Prof. Dr. Antonio Arnaiz-Villena
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
  • HLA-G
  • HLA-E
  • HLA-F
  • disease
  • MHC evolution
  • autoimmunity
  • haemochromatosis
  • narcolepsy
  • complement
  • autoimmunity

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (3 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

Jump to: Review

12 pages, 1417 KiB  
Article
The Immune Modulation HLA-G*01:01:01 Full Allele Is Associated with Gastric Adenocarcinoma Development
by Fabio Suarez-Trujillo, Ignacio Juarez, Christian Vaquero-Yuste, Alberto Gutierrez-Calvo, Adela Lopez-García, Inmaculada Lasa, Remedios Gomez, José Manuel Martin-Villa and Antonio Arnaiz-Villena
Int. J. Mol. Sci. 2024, 25(19), 10645; https://doi.org/10.3390/ijms251910645 - 3 Oct 2024
Viewed by 619
Abstract
The Human Leukocyte Antigen (HLA) system contains a set of genes involved at many levels in the innate and adaptive immune response. Among the non-classical HLA class I genes, HLA-G stands out for the numerous studies about its pivotal role in regulating/modulating immune [...] Read more.
The Human Leukocyte Antigen (HLA) system contains a set of genes involved at many levels in the innate and adaptive immune response. Among the non-classical HLA class I genes, HLA-G stands out for the numerous studies about its pivotal role in regulating/modulating immune responses. Also, its involvement in extravillous cytotrophoblast function, viral infections, autoimmunity, and cancer has been extensively documented. The present study explores for the first time the relationship between natural alleles of HLA-G, rather than STSs, SNPs, or partial gene polymorphisms, and the development of gastric adenocarcinoma, by analyzing the genetic profile of a cohort of 40 Spanish patients with this type of tumor using DNA extracted from paired biopsies of tumoral and adjacent non-tumoral gastric tissue. Our results reveal a significant statistical relationship between the presence of the HLA-G*01:01:01 allele and the development of gastric cancer, while other common alleles such as -G*01:04 or -G*01:05N did not demonstrate a significant correlation. Studying the involvement of HLA genes in the development of many diseases is relevant to understanding their pathophysiology. However, the absence of specific mechanisms underlying these associations suggests that investigating complete HLA natural alleles’ extended haplotypes or complotypes may offer a more precise and valuable approach to elucidating the association of HLA with the pathogenesis of disease. Full article
(This article belongs to the Special Issue Molecular Genetics of Human Leucocyte Antigen in Diseases)
Show Figures

Figure 1

10 pages, 278 KiB  
Article
Analysis of HLA Alleles in Different Cohorts of Patients Infected by L. infantum from Southern Spain
by Juan Francisco Gutiérrez-Bautista, Antonio Sampedro, Lucia Ballesta-Alcaraz, María Aguilera-Franco, María José Olivares-Durán, Fernando Cobo, Juan Antonio Reguera, Javier Rodríguez-Granger, Andrés Torres-Llamas, Joaquina Martín-Sánchez, Inés Aznar-Peralta, Jose Ramon Vilchez, Miguel Ángel López-Nevot and Antonio Sampedro-Martínez
Int. J. Mol. Sci. 2024, 25(15), 8205; https://doi.org/10.3390/ijms25158205 - 27 Jul 2024
Viewed by 806
Abstract
Leishmaniasis is an infectious disease caused by protozoa of the genus Leishmania, which is endemic in certain areas of Europe, such as southern Spain. The disease manifests in various clinical phenotypes, including visceral, cutaneous, mucosal, or asymptomatic leishmaniasis. This diversity in clinical [...] Read more.
Leishmaniasis is an infectious disease caused by protozoa of the genus Leishmania, which is endemic in certain areas of Europe, such as southern Spain. The disease manifests in various clinical phenotypes, including visceral, cutaneous, mucosal, or asymptomatic leishmaniasis. This diversity in clinical outcomes may be influenced by the host immune response, with human leukocyte antigen (HLA) molecules playing a crucial role in determining susceptibility and progression of the infection. This study explores the association between specific HLA variants and Leishmania infantum infection. We recruited four cohorts: a control group, asymptomatic individuals, patients with symptomatic disease, and cohabitants of infected individuals. HLA typing was performed for all participants, followed by an association analysis with infection status and disease progression. Our findings indicate that the HLA-B*38 and HLA-C*03 alleles are associated with protection against L. infantum infection. These results contribute to a better understanding of the disease’s progression, offer potential for new therapeutic approaches such as vaccines, and expand the existing knowledge in the literature. Full article
(This article belongs to the Special Issue Molecular Genetics of Human Leucocyte Antigen in Diseases)

Review

Jump to: Research

14 pages, 807 KiB  
Review
Human Leukocyte Antigen and microRNAs as Key Orchestrators of Mild Cognitive Impairment and Alzheimer’s Disease: A Systematic Review
by Cristina Sorina Cătană, Monica Mihaela Marta, Mădălina Văleanu, Lucia Dican and Cătălina Angela Crișan
Int. J. Mol. Sci. 2024, 25(15), 8544; https://doi.org/10.3390/ijms25158544 - 5 Aug 2024
Viewed by 1127
Abstract
The expression of inflamma-miRs and human leukocyte antigen (HLA) haplotypes could indicate mild cognitive impairment (MCI) and Alzheimer’s disease (AD). We used international databases to conduct a systematic review of studies on HLA variants and a meta-analysis of research on microRNAs [...] Read more.
The expression of inflamma-miRs and human leukocyte antigen (HLA) haplotypes could indicate mild cognitive impairment (MCI) and Alzheimer’s disease (AD). We used international databases to conduct a systematic review of studies on HLA variants and a meta-analysis of research on microRNAs (miRNAs). We aimed to analyze the discriminative value of HLA variants and miRNAs in MCI, AD and controls to evaluate the protective or causative effect of HLA in cognitive decline, establish the role of miRNAs as biomarkers for the early detection of AD, and find a possible link between miRNAs and HLA. Statistical analysis was conducted using Comprehensive Meta-analysis software, version 2.2.050 (Biostat Inc., Englewood, NJ, USA). The effect sizes were estimated by the logarithm base 2 of the fold change. The systematic review revealed that some HLA variants, such as HLA-B*4402, HLA-A*33:01, HLA-A*33:01, HLA-DPB1, HLA-DR15, HLA-DQB1*03:03, HLA-DQB1*06:01, HLA-DQB1*03:01, SNPs on HLA-DRB1/DQB1, and HLA-DQA1, predisposed to cognitive decline before the occurrence of AD, while HLA-A1*01, HLA-DRB1∗13:02, HLA-DRB1*04:04, and HLA-DRB1*04:01 demonstrated a protective role. The meta-analysis identified let-7 and miR-15/16 as biomarkers for the early detection of AD. The association between these two miRNA families and the HLA variants that predispose to AD could be used for the early screening and prevention of MCI. Full article
(This article belongs to the Special Issue Molecular Genetics of Human Leucocyte Antigen in Diseases)
Show Figures

Figure 1

Back to TopTop