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Genetic Studies of Immune-Related Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 2752

Special Issue Editor


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Guest Editor
CNR Istituto di Ricerca Genetica e Biomedica, 09042 Monserrato, Italy
Interests: immune-related diseases; genetic components of complex traits; innate immunity; inflammation; thyroid disease; functional studies

Special Issue Information

Dear Colleagues,

Abnormal functioning of the immune system, which is a complex network of tissues, cells and molecules that has evolved to protect the body from microbial pathogens, harmful cells and substances, can lead to tissue injury and the development of immune-mediated diseases, a heterogeneous group of conditions of unclear etiology affecting about 10% of the world population. They include highly disabling, complex disorders like autoimmune, allergic and inflammatory diseases, whose incidence and prevalence are on the rise, especially in Western countries, just like rare primary immune deficiencies.

In the last decade, hundreds of genetic variants associated with the risk of developing different immune-mediated diseases, as well as those regulating individual differences in the levels of immune cells and molecules, have been identified through SNP-based and sequencing-based genome-wide association studies (GWASs). These studies have allowed scientists to better define the genetic architecture of complex immune traits and diseases and to estimate the polygenic risk scores of developing a specific disease. Nonetheless, inferring casual variants and mechanisms underlying these associations remains challenging and limits the translation of GWAS findings into new therapeutics for these chronic diseases.

In this Special Issue, we welcome research and review articles that improve our understanding of the etiology of immune-related diseases, including functional follow-up studies, and address the current and future challenges in the field, particularly those involved in linking GWAS association results to biological function. Since IJMS is a journal of molecular science, pure clinical studies will not suitable, but clinical submissions with biomolecular experiments are welcomed.

Dr. Silvia Naitza
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

  • autoimmune diseases
  • inflammatory diseases
  • asthma and allergies
  • GWAS studies
  • GWAS meta-analysis
  • eQTLs and pQTLs analysis
  • endophenotypes
  • immune cell traits
  • single cell transcriptomics
  • functional genomics
  • fine mapping
  • casual variant
  • drug target

Published Papers (2 papers)

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Research

19 pages, 2826 KiB  
Article
Blood Transcriptomics Identifies Multiple Gene Expression Pathways Associated with the Clinical Efficacy of Hymenoptera Venom Immunotherapy
by Ajda Demšar Luzar, Peter Korošec, Mitja Košnik, Mihaela Zidarn and Matija Rijavec
Int. J. Mol. Sci. 2024, 25(6), 3499; https://doi.org/10.3390/ijms25063499 - 20 Mar 2024
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Abstract
Allergen-specific venom immunotherapy (VIT) is a well-established therapy for Hymenoptera venom allergy (HVA). However, the precise mechanism underlying its clinical effect remains uncertain. Our study aimed to identify the molecular mechanisms associated with VIT efficiency. We prospectively included 19 patients with HVA undergoing [...] Read more.
Allergen-specific venom immunotherapy (VIT) is a well-established therapy for Hymenoptera venom allergy (HVA). However, the precise mechanism underlying its clinical effect remains uncertain. Our study aimed to identify the molecular mechanisms associated with VIT efficiency. We prospectively included 19 patients with HVA undergoing VIT (sampled before the beginning of VIT, after reaching the maintenance dose, one year after finishing VIT, and after a sting challenge) and 9 healthy controls. RNA sequencing of whole blood was performed on an Illumina sequencing platform. Longitudinal transcriptomic profiling revealed the importance of the inhibition of the NFκB pathway and the downregulation of DUX4 transcripts for the early protection and induction of tolerance after finishing VIT. Furthermore, successful treatment was associated with inhibiting Th2, Th17, and macrophage alternative signalling pathways in synergy with the inhibition of the PPAR pathway and further silencing of the Th2 response. The immune system became activated when reaching the maintenance dose and was suppressed after finishing VIT. Finally, successful VIT restores the immune system’s balance to a state similar to that of healthy individuals. Our results underline the important role of the inhibition of four pathways in the clinical effect of VIT: Th2, Th17, NFκB, and macrophage signalling. Two biomarkers specific for successful VIT, regardless of the time of sampling, were C4BPA and RPS10-NUDT3 and should be further tested as potential biomarkers. Full article
(This article belongs to the Special Issue Genetic Studies of Immune-Related Diseases)
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11 pages, 1770 KiB  
Article
Effects of Human Leukocyte Antigen DRB1 Genetic Polymorphism on Anti-Cyclic Citrullinated Peptide (ANTI-CCP) and Rheumatoid Factor (RF) Expression in Rheumatoid Arthritis (RA) Patients
by Yu-Chia Chen, Chung-Ming Huang, Ting-Yuan Liu, Ning Wu, Chia-Jung Chan, Peng-Yu Shih, Hsin-Han Chen, Shih-Yin Chen and Fuu-Jen Tsai
Int. J. Mol. Sci. 2023, 24(15), 12036; https://doi.org/10.3390/ijms241512036 - 27 Jul 2023
Cited by 2 | Viewed by 1270
Abstract
Rheumatoid arthritis (RA) is a systemic disease characterized by non-infectious inflammation of the joints and surrounding tissues, which can cause severe health problems, affect the patient’s daily life, and even cause death. RA can be clinically diagnosed by the occurrence of blood serological [...] Read more.
Rheumatoid arthritis (RA) is a systemic disease characterized by non-infectious inflammation of the joints and surrounding tissues, which can cause severe health problems, affect the patient’s daily life, and even cause death. RA can be clinically diagnosed by the occurrence of blood serological markers, rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibody (anti-CCP). However, about 20% of RA patients exhibit negative results for both markers, which makes RA diagnosis difficult and, therefore, may delay the effective treatment. Previous studies found some evidence that human leukocyte antigen (HLA)-related genes might be the susceptibility genes for RA and their polymorphisms might contribute to varieties of susceptibility and disease severity. This study aimed for the genetic polymorphisms of the RA patient genome and their effects on the RA patient’s serological makers, RF and anti-CCP. A total of 4580 patients’ electronic medical records from 1992 to 2020 were retrieved from the China Medical University Hospital database. The most representative single-nucleotide polymorphisms (SNPs) were identified through a genome-wide association study (GWAS) followed by enzyme-linked immunosorbent assay (ELISA) validation using the blood from 30 additional RA patients. The results showed significant changes at the position of chromosome 6 with rs9270481 being the most significant locus, which indicated the location of the HLA-DRB1 gene. Further, patients with the CC genotype at this locus were more likely to exhibit negative results for RF and anti-CCP than those with the TT genotype. The C allele was also more likely to be associated with negative results for RF and anti-CCP. The results demonstrated that a genetic polymorphism at rs9270481 affected the expression of RF and anti-CCP in RA patients, which might indicate the necessity to develop a personalized treatment plan for each individual patient based on the genetic profile. Full article
(This article belongs to the Special Issue Genetic Studies of Immune-Related Diseases)
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