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New Advances in Immunogenetics of Disease
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New Advances in Immunogenetics of Disease

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 September 2024) | Viewed by 13113

Special Issue Editors

Prof. Dr. Elżbieta Kaczmarek

E-Mail Website
Guest Editor
Department of Bioinformatics and Computational Biology, Poznan University of Medical Sciences, Rokietnicka 4 Street, 60-806 Poznań, Poland
Interests: computational biology; bioinformatics; immunogenetics of diseases; autoimmune; immunoblot
Dr. Bogna Grygiel-Gorniak

E-Mail Website
Guest Editor
Department of Rheumatology, Rehabilitation and Internal Medicine, Poznan University of Medical Sciences, 28 Czerwca Street 135/147, 61-545 Poznań, Poland
Interests: immunological and genetic conditions of diseases; personalized medicine; sequence analysis; next-generation sequencing; diagnostic algorithms

Special Issue Information

Dear Colleagues,

We invite you to submit a manuscript for an ongoing Special Issue of Genes entitled "New Advances in Immunogenetics of Disease." Immunogenetic studies and the identification of genetic variations significantly impact new therapeutic targets for diseases. Advances in sequencing technologies, including proteomics, metabolomics, genomics, etc., have led to opportunities to systematically analyze omics data for the better diagnosis and treatment of diseases. Since the genetic background is crucial to developing autoimmune diseases, we encourage you to share your knowledge and clinical experience in this area.

This Special Issue aims to collect high-quality original research articles, mini-reviews, and full length-reviews on the following issues:

  • Immunogenetic basis of disease pathogenesis;
  • Quantitative immunogenetics;
  • Prognostic indicators of immunogenetics in diagnosis, therapies, and insight into the pathogenesis of diseases;
  • Associations between aging, unhealthy lifestyle, poor diet, and immunogenetic background of chronic diseases;
  • Bioinformatics strategies and opportunities for searching appropriate reference sequences and sequencing-based genotyping;
  • Bioinformatic approaches and technologies used to achieve the proper level of typing resolution in immunogenicity.

This Special Issue welcomes clinical and pre-clinical studies of the relationship between genetic background and immune response in human diseases, highlighting novel diagnosis methods and mechanisms. The topics of particular interest include the influence of aging, unhealthy lifestyle, and a poorly balanced diet on immunogenetic response. New bioinformatics approaches and technologies used to achieve the proper level of typing resolution in immunogenicity will be appreciated.

Prof. Dr. Elżbieta Kaczmarek
Dr. Bogna Grygiel-Gorniak
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 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. 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

  • immunogenetics in disease pathogenesis
  • quantitative immunogenetics
  • prognostic indicators
  • bioinformatics

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

Published Papers (6 papers)

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Research

Jump to: Review

19 pages, 4091 KiB  
Article
CCND1 Overexpression in Idiopathic Dilated Cardiomyopathy: A Promising Biomarker?
by Khatereh Dehghani, Agata Stanek, Arash Bagherabadi, Fatemeh Atashi, Mohammad Beygi, Amirreza Hooshmand, Pezhman Hamedi, Mohsen Farhang, Soghra Bagheri and Samaneh Zolghadri
Genes 2023, 14(6), 1243; https://doi.org/10.3390/genes14061243 - 10 Jun 2023
Cited by 3 | Viewed by 2041
Abstract
Cardiomyopathy, a disorder of electrical or heart muscle function, represents a type of cardiac muscle failure and culminates in severe heart conditions. The prevalence of dilated cardiomyopathy (DCM) is higher than that of other types (hypertrophic cardiomyopathy and restrictive cardiomyopathy) and causes many [...] Read more.
Cardiomyopathy, a disorder of electrical or heart muscle function, represents a type of cardiac muscle failure and culminates in severe heart conditions. The prevalence of dilated cardiomyopathy (DCM) is higher than that of other types (hypertrophic cardiomyopathy and restrictive cardiomyopathy) and causes many deaths. Idiopathic dilated cardiomyopathy (IDCM) is a type of DCM with an unknown underlying cause. This study aims to analyze the gene network of IDCM patients to identify disease biomarkers. Data were first extracted from the Gene Expression Omnibus (GEO) dataset and normalized based on the RMA algorithm (Bioconductor package), and differentially expressed genes were identified. The gene network was mapped on the STRING website, and the data were transferred to Cytoscape software to determine the top 100 genes. In the following, several genes, including VEGFA, IGF1, APP, STAT1, CCND1, MYH10, and MYH11, were selected for clinical studies. Peripheral blood samples were taken from 14 identified IDCM patients and 14 controls. The RT-PCR results revealed no significant differences in the expression of the genes APP, MYH10, and MYH11 between the two groups. By contrast, the STAT1, IGF1, CCND1, and VEGFA genes were overexpressed in patients more than in controls. The highest expression was found for VEGFA, followed by CCND1 (p < 0.001). Overexpression of these genes may contribute to disease progression in patients with IDCM. However, more patients and genes need to be analyzed in order to achieve more robust results. Full article
(This article belongs to the Special Issue New Advances in Immunogenetics of Disease)
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14 pages, 332 KiB  
Article
The Influence of FAM13A and PPAR-γ2 Gene Polymorphisms on the Metabolic State of Postmenopausal Women
by Bogna Grygiel-Górniak, Iwona Ziółkowska-Suchanek, Lidia Szymkowiak, Natalia Rozwadowska and Elżbieta Kaczmarek
Genes 2023, 14(4), 914; https://doi.org/10.3390/genes14040914 - 14 Apr 2023
Viewed by 1714
Abstract
Recently, we have observed two significant pandemics caused by communicable (COVID-19) and non-communicable factors (obesity). Obesity is related to a specific genetic background and characterized by immunogenetic features, such as low-grade systemic inflammation. The specific genetic variants include the presence of polymorphism of [...] Read more.
Recently, we have observed two significant pandemics caused by communicable (COVID-19) and non-communicable factors (obesity). Obesity is related to a specific genetic background and characterized by immunogenetic features, such as low-grade systemic inflammation. The specific genetic variants include the presence of polymorphism of the Peroxisome Proliferator-Activated Receptors gene (PPAR-γ2; Pro12Ala, rs1801282, and C1431T, rs3856806 polymorphisms), β-adrenergic receptor gene (3β-AR; Trp64Arg, rs4994), and Family With Sequence Similarity 13 Member A gene (FAM13A; rs1903003, rs7671167, rs2869967). This study aimed to analyze the genetic background, body fat distribution, and hypertension risk in obese metabolically healthy postmenopausal women (n = 229, including 105 lean and 124 obese subjects). Each patient underwent anthropometric and genetic evaluations. The study has shown that the highest value of BMI was associated with visceral fat distribution. The analysis of particular genotypes has revealed no differences between lean and obese women except for FAM13A rs1903003 (CC), which was more prevalent in lean patients. The co-existence of the PPAR-γ2 C1431C variant with other FAM13A gene polymorphisms [rs1903003(TT) or rs7671167(TT), or rs2869967(CC)] was related to higher BMI values and visceral fat distribution (WHR > 0.85). The co-association of FAM13A rs1903003 (CC) and 3β-AR Trp64Arg was associated with higher values of systolic (SBP) and diastolic blood pressure (DBP). We conclude that the co-existence of FAM13A variants with C1413C polymorphism of the PPAR-γ2 gene is responsible for body fat amount and distribution. Full article
(This article belongs to the Special Issue New Advances in Immunogenetics of Disease)
13 pages, 1128 KiB  
Article
Codon Pattern and Compositional Constraints Determination of Genes Associated with Chronic Periodontitis
by Rekha Khandia, Megha Pandey, Igor Vladimirovich Rzhepakovsky, Azmat Ali Khan and Isabel Legaz
Genes 2022, 13(11), 1934; https://doi.org/10.3390/genes13111934 - 24 Oct 2022
Cited by 2 | Viewed by 1647
Abstract
Genome-wide association studies showed the relationship of NIN, ABHD12B, WHAMM, AP3B2, and SIGLEC5 with chronic periodontitis. The study’s objective was to investigate different molecular patterns and evolutionary forces acting on the mentioned genes. The investigation of molecular patterns encompasses [...] Read more.
Genome-wide association studies showed the relationship of NIN, ABHD12B, WHAMM, AP3B2, and SIGLEC5 with chronic periodontitis. The study’s objective was to investigate different molecular patterns and evolutionary forces acting on the mentioned genes. The investigation of molecular patterns encompasses the study of compositional parameters, expression profile, physical properties of genes, codon preferences, degree of codon bias, determination of the most influential codons, and assessment of actions of evolutionary forces, such as mutations and natural selection. The overall compositional analysis revealed the dominance of A and G nucleotides compared to T and C. A relatively low codon usage bias is observed. The CTG codon is the most overused codon, followed by TCC. The genes, AP3B2 and SIGLEC5, preferred GC-ending codons, while NIN, ABHD12B, and WHAMM preferred AT-ending codons. The presence of directional mutational force and natural selection was found to operate codon usage in genes envisaged, and selective forces were dominant over mutational forces. Apart from mutation and selection forces, compositional constraints also played imperative roles. The study enriched our knowledge of specific molecular patterns associated with the set of genes significantly associated with chronic periodontitis. Further studies are warranted to identify more genetic signatures associated with the disease. Full article
(This article belongs to the Special Issue New Advances in Immunogenetics of Disease)
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Review

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18 pages, 872 KiB  
Review
Immunogenetics of Systemic Sclerosis
by Olga Gumkowska-Sroka, Kacper Kotyla and Przemysław Kotyla
Genes 2024, 15(5), 586; https://doi.org/10.3390/genes15050586 - 5 May 2024
Viewed by 1693
Abstract
Systemic sclerosis (SSc) is a rare autoimmune connective tissue disorder characterized by massive fibrosis, vascular damage, and immune imbalance. Advances in rheumatology and immunology over the past two decades have led to a redefinition of systemic sclerosis, shifting from its initial perception as [...] Read more.
Systemic sclerosis (SSc) is a rare autoimmune connective tissue disorder characterized by massive fibrosis, vascular damage, and immune imbalance. Advances in rheumatology and immunology over the past two decades have led to a redefinition of systemic sclerosis, shifting from its initial perception as primarily a “hyperfibrotic” state towards a recognition of systemic sclerosis as an immune-mediated disease. Consequently, the search for genetic markers has transitioned from focusing on fibrotic mechanisms to exploring immune regulatory pathways. Immunogenetics, an emerging field at the intersection of immunology, molecular biology, and genetics has provided valuable insights into inherited factors that influence immunity. Data from genetic studies conducted thus far indicate that alterations in genetic messages can significantly impact disease risk and progression. While certain genetic variations may confer protective effects, others may exacerbate disease susceptibility. This paper presents a comprehensive review of the most relevant genetic changes that influence both the risk and course of systemic sclerosis. Special emphasis is placed on factors regulating the immune response, recognizing their pivotal role in the pathogenesis of the disease. Full article
(This article belongs to the Special Issue New Advances in Immunogenetics of Disease)
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15 pages, 2245 KiB  
Review
FOXP3: A Player of Immunogenetic Architecture in Lung Cancer
by Iwona Ziółkowska-Suchanek and Magdalena Żurawek
Genes 2024, 15(4), 493; https://doi.org/10.3390/genes15040493 - 15 Apr 2024
Cited by 1 | Viewed by 1805
Abstract
The transcription factor forkhead box protein 3 (FOXP3) is considered to be a prominent component of the immune system expressed in regulatory T cells (Tregs). Tregs are immunosuppressive cells that regulate immune homeostasis and self-tolerance. FOXP3 was originally thought to be a Tregs-specific [...] Read more.
The transcription factor forkhead box protein 3 (FOXP3) is considered to be a prominent component of the immune system expressed in regulatory T cells (Tregs). Tregs are immunosuppressive cells that regulate immune homeostasis and self-tolerance. FOXP3 was originally thought to be a Tregs-specific molecule, but recent studies have pinpointed that FOXP3 is expressed in a diversity of benign tumors and carcinomas. The vast majority of the data have shown that FOXP3 is correlated with an unfavorable prognosis, although there are some reports indicating the opposite function of this molecule. Here, we review recent progress in understanding the FOXP3 role in the immunogenetic architecture of lung cancer, which is the leading cause of cancer-related death. We discuss the prognostic significance of tumor FOXP3 expression, tumor-infiltrating FOXP3-lymphocytes, tumor FOXP3 in tumor microenvironments and the potential of FOXP3-targeted therapy. Full article
(This article belongs to the Special Issue New Advances in Immunogenetics of Disease)
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21 pages, 1455 KiB  
Review
Immunogenetic Aspects of Sarcopenic Obesity
by Łukasz Mazurkiewicz, Krystian Czernikiewicz and Bogna Grygiel-Górniak
Genes 2024, 15(2), 206; https://doi.org/10.3390/genes15020206 - 5 Feb 2024
Viewed by 3186
Abstract
Sarcopenic obesity (SO) is a combination of obesity and sarcopenia, with diagnostic criteria defined as impaired skeletal muscle function and altered body composition (e.g., increased fat mass and reduced muscle mass). The mechanism of SO is not yet perfectly understood; however, the pathogenesis [...] Read more.
Sarcopenic obesity (SO) is a combination of obesity and sarcopenia, with diagnostic criteria defined as impaired skeletal muscle function and altered body composition (e.g., increased fat mass and reduced muscle mass). The mechanism of SO is not yet perfectly understood; however, the pathogenesis includes aging and its complications, chronic inflammation, insulin resistance (IR), and hormonal changes. Genetic background is apparent in the pathogenesis of isolated obesity, which is most often polygenic and is characterized by the additive effect of various genetic factors. The genetic etiology has not been strictly established in SO. Still, many data confirm the existence of pathogenic gene variants, e.g., Fat Mass and Obesity Associated Gene (FTO), beta-2-adrenergic receptor (ADRB2) gene, melanocortin-4 receptor (MC4R) and others with obesity. The literature on the role of these genes is scarce, and their role has not yet been thoroughly established. On the other hand, the involvement of systemic inflammation due to increased adipose tissue in SO plays a significant role in its pathophysiology through the synthesis of various cytokines such as monocyte chemoattractant protein-1 (MCP-1), IL-1Ra, IL-15, adiponectin or CRP. The lack of anti-inflammatory cytokine (e.g., IL-15) can increase SO risk, but further studies are needed to evaluate the exact mechanisms of implications of various cytokines in SO individuals. This manuscript analyses various immunogenetic and non-genetic factors and summarizes the recent findings on immunogenetics potentially impacting SO development. Full article
(This article belongs to the Special Issue New Advances in Immunogenetics of Disease)
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