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Biomolecules
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Advances in Immunogenetic Markers of Human Multifactorial Diseases
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Advances in Immunogenetic Markers of Human Multifactorial Diseases

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: closed (15 October 2022) | Viewed by 13326

Special Issue Editor

Prof. Dr. Domenico Lio

E-Mail Website
Guest Editor
Clinical Pathology, Department of Bio-Medicine, Neuroscience, and Advanced Diagnostics, University of Palermo, 90100 Palermo, Italy
Interests: Immunogenetics; ageing-associated diseases; genetic predictive markers in multifactorial diseases; genetic predictive markers in immune diseases; genetic predictive markers in infectious diseases; immunogenetics of Down’s syndrome

Special Issue Information

Dear Colleagues,

Over the past decades, thousands of phenotype-associated DNA sequence variants have been identified, potentially explaining inter-individual phenotypic differences and disease susceptibility, starting from the candidate genes approach, then moving on to GWAS and arriving at the multiomics analyses as metabolomics. However, a challenge remains regarding the translation of associations into causative mechanisms for complex diseases. Indeed, the effect of genetic variants might be modulated by an interaction with other variants, the allele-specific binding modification of affinity to transcription factors, allele-specific epigenetic regulation as well as environmental factors for disease risk. In this scenario, an emerging and important role is assumed by variants of genes regulating the immune and inflammatory responses. Data on the role of this complex interplay among variants of genes coding for key molecules implied in immune and inflammatory response regulation and other molecules involved in the neoplastic, cardiovascular, metabolic as well organ-specific disease pathogenesis accumulation, and the state of the art is continuously evolving. This Special Issue aims to present an overviews of current studies regarding the interactions of the aforementioned factors and their influence on multifactorial human pathologies, welcoming reviews regarding the role of immunogenetic variants in specific pathologies as well original experimental works. In summary, we are sure that by contributing to this Special Issue authors will aid in outlining the status of the most advanced knowledge concerning the role and significance of complex crosstalk among genetic factors, the immune system, epigenetic patterns and environmental factors at the bases of multifactorial disease susceptibility.

Prof. Dr. Domenico Lio
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. Biomolecules 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 2700 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

  • immunogenetic and genetic predictive markers in multifactorial diseases
  • immunogenetics of aging-associated diseases
  • immunogenetic markers of neoplastic diseases
  • immunogenetic markers of cardiovascular diseases
  • immunogenetic markers of metabolic diseases
  • immunogenetic markers of organ-specific diseases
  • genetic predictive markers in immune diseases
  • immunogenetics of infectious diseases

Published Papers (6 papers)

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Research

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14 pages, 629 KiB  
Article
IL-1 Superfamily Member (IL-1A, IL-1B and IL-18) Genetic Variants Influence Susceptibility and Clinical Course of Mediterranean Spotter Fever
by Letizia Scola, Giovanni Pilato, Rosa Maria Giarratana, Giuseppa Luisa Sanfilippo, Domenico Lio, Claudia Colomba and Giovanni Maurizio Giammanco
Biomolecules 2022, 12(12), 1892; https://doi.org/10.3390/biom12121892 - 17 Dec 2022
Viewed by 1597
Abstract
Mediterranean Spotted Fever (MSF) is one of the most common spotted fever Rickettsioses. Most cases of MSF follow a benign course, with a minority of cases being fatal. The severity of the infection depends on bacterial virulence, dose and host factors such as [...] Read more.
Mediterranean Spotted Fever (MSF) is one of the most common spotted fever Rickettsioses. Most cases of MSF follow a benign course, with a minority of cases being fatal. The severity of the infection depends on bacterial virulence, dose and host factors such as effective immune response and genetic background. Herein, we reported data on typing by competitive allele-specific PCR of functionally relevant polymorphisms of genes coding for MyD88 adapter-like (Mal/TIRAP) protein (rs8177374), interleukin(IL)-1 cluster (IL-1A rs1800587, IL-1B rs16944 and rs1143634) and IL-18 (rs187238), which might be crucial for an efficient immune response. The results enlighten the role that IL-1 gene cluster variants might play in susceptibility against Rickettsia conorii infection. In particular, the IL-1A rs1800587TT genotype was significantly increased in patients alone and combined in a haplotype composed by minor alleles rs1800587T, rs16944A and rs1143634A. This result was confirmed using the decision tree heuristic approach. Using this methodology, IL-1A rs1800587TT genotype was the better discrimination key among MSF patients and controls. In addition, the IL-1 gene cluster SNP genotypes containing minor alleles and IL-18 rs187238G positive genotypes were found as associated with risk of severe complications such as sepsis, septic shock, acute respiratory distress syndrome and coma. In conclusion, these data suggest that the evaluation of IL-1A, IL-1B and IL-18 gene SNPs can add useful information on the clinical course of patients affected by Mediterranean Spotted Fever, even if further confirmatory studies will be necessary. Full article
(This article belongs to the Special Issue Advances in Immunogenetic Markers of Human Multifactorial Diseases)
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10 pages, 285 KiB  
Article
The HLA-DRB1*07 Allele Is Associated with Interstitial Lung Abnormalities (ILA) and Subpleural Location in a Mexican Mestizo Population
by Ivette Buendia-Roldan, Marco Antonio Ponce-Gallegos, Daniela Lara-Beltrán, Alma D. Del Ángel-Pablo, Gloria Pérez-Rubio, Mayra Mejía, Moises Selman and Ramcés Falfán-Valencia
Biomolecules 2022, 12(11), 1662; https://doi.org/10.3390/biom12111662 - 09 Nov 2022
Cited by 1 | Viewed by 1864
Abstract
Interstitial lung abnormalities (ILA) are defined as the presence of different patterns of increased lung density, including ground glass attenuation and reticular opacities on chest high-resolution computed tomography (HRCT). In this study, we included 90 subjects with ILA and 189 healthy controls (HC) [...] Read more.
Interstitial lung abnormalities (ILA) are defined as the presence of different patterns of increased lung density, including ground glass attenuation and reticular opacities on chest high-resolution computed tomography (HRCT). In this study, we included 90 subjects with ILA and 189 healthy controls (HC) from our Aging Lung Program. We found that subjects with ILA are older, have a significant smoking history, and have worse pulmonary function than HC (p < 0.05). When we evaluated the allele frequencies of the human leukocyte antigen (HLA) system, we found that HLA-DRB1*07 was associated with a higher risk for ILA (p < 0.05, OR = 1.95, 95% CI = 1.06–3.57). When we compared subjects with subpleural ILA vs. HC, the association with HLA-DRB1*07 became stronger than the whole ILA group (p < 0.05, OR = 2.29, 95% CI = 1.24–4.25). Furthermore, subjects with subpleural ILA and central ILA display differences in allele frequencies with HLA-DRB1*14 (3.33% vs. 13.33%, p < 0.05) and *15 (3.33% vs. 20%, p < 0.05). Our findings indicate that the HLA-DRB1*07 allele contributes to the risk of ILA, especially those of subpleural locations. Full article
(This article belongs to the Special Issue Advances in Immunogenetic Markers of Human Multifactorial Diseases)
11 pages, 303 KiB  
Article
CASP1 Gene Polymorphisms and BAT1-NFKBIL-LTA-CASP1 Gene–Gene Interactions Are Associated with Restenosis after Coronary Stenting
by Gilberto Vargas-Alarcón, Julian Ramírez-Bello, Marco Antonio Peña-Duque, Marco Antonio Martínez-Ríos, Hilda Delgadillo-Rodríguez and José Manuel Fragoso
Biomolecules 2022, 12(6), 765; https://doi.org/10.3390/biom12060765 - 31 May 2022
Cited by 1 | Viewed by 1475
Abstract
In the present study, we evaluated the association of the BAT1, NFKBIL, LTA, and CASP1 single nucleotide polymorphisms and the gene–gene interactions with risk of developing restenosis after coronary stenting. The allele and genotype determination of the polymorphisms (BAT1 [...] Read more.
In the present study, we evaluated the association of the BAT1, NFKBIL, LTA, and CASP1 single nucleotide polymorphisms and the gene–gene interactions with risk of developing restenosis after coronary stenting. The allele and genotype determination of the polymorphisms (BAT1 rs2239527 C/G, NFKBIL1 rs2071592 T/A, LTA rs1800683 G/A, CASP1 rs501192 A/G, and CASP1 rs580253 A/G) were performed by 5’exonuclease TaqMan assays in 219 patients: 66 patients with restenosis and 153 without restenosis. The distribution of rs2239527 C/G, rs2071592 T/A, and rs1800683 G/A polymorphisms was similar in patients with and without restenosis. Nonetheless, under recessive (OR = 2.73, pCRes = 0.031) and additive models (OR = 1.65, pCAdd = 0.039), the AA genotype of the rs501192 A/G polymorphism increased the restenosis risk. Under co-dominant, dominant, recessive, and additive models, the AA genotype of the rs580253 A/G was associated with a high restenosis risk (OR = 5.38, pCCo-Dom = 0.003; OR = 2.12, pCDom = 0.031; OR = 4.32, pCRes = 0.001; and OR = 2.16, 95%CI: 1.33–3.52, pCAdd = 0.001, respectively). In addition, we identified an interaction associated with restenosis susceptibility: BAT1-NFKBIL1-LTA-CASP1 (OR = 9.92, p < 0.001). In summary, our findings demonstrate that the rs501192 A/G and rs580253 A/G polymorphisms, as well as the gene–gene interactions between BAT1-NFKBIL1-LTA-CASP1, are associated with an increased restenosis risk after coronary stenting. Full article
(This article belongs to the Special Issue Advances in Immunogenetic Markers of Human Multifactorial Diseases)

Review

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20 pages, 2336 KiB  
Review
P2 Receptors: Novel Disease Markers and Metabolic Checkpoints in Immune Cells
by Valentina Vultaggio-Poma and Francesco Di Virgilio
Biomolecules 2022, 12(7), 983; https://doi.org/10.3390/biom12070983 - 14 Jul 2022
Cited by 6 | Viewed by 2978
Abstract
Extracellular ATP (eATP) and P2 receptors are novel emerging regulators of T-lymphocyte responses. Cellular ATP is released via multiple pathways and accumulates at sites of tissue damage and inflammation. P2 receptor expression and function are affected by numerous single nucleotide polymorphisms (SNPs) associated [...] Read more.
Extracellular ATP (eATP) and P2 receptors are novel emerging regulators of T-lymphocyte responses. Cellular ATP is released via multiple pathways and accumulates at sites of tissue damage and inflammation. P2 receptor expression and function are affected by numerous single nucleotide polymorphisms (SNPs) associated with diverse disease conditions. Stimulation by released nucleotides (purinergic signalling) modulates several T-lymphocyte functions, among which energy metabolism. Energy metabolism, whether oxidative or glycolytic, in turn deeply affects T-cell activation, differentiation and effector responses. Specific P2R subtypes, among which the P2X7 receptor (P2X7R), are either up- or down-regulated during T-cell activation and differentiation; thus, they can be considered indexes of activation/quiescence, reporters of T-cell metabolic status and, in principle, markers of immune-mediated disease conditions. Full article
(This article belongs to the Special Issue Advances in Immunogenetic Markers of Human Multifactorial Diseases)
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20 pages, 1173 KiB  
Review
Epigenetic Reprogramming of the Inflammatory Response in Obesity and Type 2 Diabetes
by Federica Zatterale, Gregory Alexander Raciti, Immacolata Prevenzano, Alessia Leone, Michele Campitelli, Veronica De Rosa, Francesco Beguinot and Luca Parrillo
Biomolecules 2022, 12(7), 982; https://doi.org/10.3390/biom12070982 - 14 Jul 2022
Cited by 11 | Viewed by 2662
Abstract
For the past several decades, the prevalence of obesity and type 2 diabetes (T2D) has continued to rise on a global level. The risk contributing to this pandemic implicates both genetic and environmental factors, which are functionally integrated by epigenetic mechanisms. While these [...] Read more.
For the past several decades, the prevalence of obesity and type 2 diabetes (T2D) has continued to rise on a global level. The risk contributing to this pandemic implicates both genetic and environmental factors, which are functionally integrated by epigenetic mechanisms. While these conditions are accompanied by major abnormalities in fuel metabolism, evidence indicates that altered immune cell functions also play an important role in shaping of obesity and T2D phenotypes. Interestingly, these events have been shown to be determined by epigenetic mechanisms. Consistently, recent epigenome-wide association studies have demonstrated that immune cells from obese and T2D individuals feature specific epigenetic profiles when compared to those from healthy subjects. In this work, we have reviewed recent literature reporting epigenetic changes affecting the immune cell phenotype and function in obesity and T2D. We will further discuss therapeutic strategies targeting epigenetic marks for treating obesity and T2D-associated inflammation. Full article
(This article belongs to the Special Issue Advances in Immunogenetic Markers of Human Multifactorial Diseases)
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19 pages, 998 KiB  
Review
MicroRNAs at the Crossroad between Immunoediting and Oncogenic Drivers in Hepatocellular Carcinoma
by Laura Gramantieri, Francesca Fornari, Catia Giovannini and Davide Trerè
Biomolecules 2022, 12(7), 930; https://doi.org/10.3390/biom12070930 - 02 Jul 2022
Cited by 3 | Viewed by 2041
Abstract
Treatments aimed to reverse the tumor-induced immune tolerance represent a promising approach for advanced hepatocellular carcinoma (HCC). Notwithstanding, primary nonresponse, early, and late disease reactivation still represent major clinical challenges. Here, we focused on microRNAs (miRNAs) acting both as modulators of cancer cell [...] Read more.
Treatments aimed to reverse the tumor-induced immune tolerance represent a promising approach for advanced hepatocellular carcinoma (HCC). Notwithstanding, primary nonresponse, early, and late disease reactivation still represent major clinical challenges. Here, we focused on microRNAs (miRNAs) acting both as modulators of cancer cell hallmarks and immune system response. We outlined the bidirectional function that some oncogenic miRNAs play in the differentiation and program activation of the immune system development and, at the same time, in the progression of HCC. Indeed, the multifaceted spectrum of miRNA targets allows the modulation of both immune-associated factors and oncogenic or tumor suppressor drivers at the same time. Understanding the molecular changes contributing to disease onset, progression, and resistance to treatments might help to identify possible novel biomarkers for selecting patient subgroups, and to design combined tailored treatments to potentiate antitumor approaches. Preliminary findings seem to argue in favor of a bidirectional function of some miRNAs, which enact an effective modulation of molecular pathways driving oncogenic and immune-skipping phenotypes associated with cancer aggressiveness. The identification of these miRNAs and the characterization of their ‘dual’ role might help to unravel novel biomarkers identifying those patients more likely to respond to immune checkpoint inhibitors and to identify possible therapeutic targets with both antitumor and immunomodulatory functions. In the present review, we will focus on the restricted panel of miRNAs playing a bidirectional role in HCC, influencing oncogenic and immune-related pathways at once. Even though this field is still poorly investigated in HCC, it might represent a source of candidate molecules acting as both biomarkers and therapeutic targets in the setting of immune-based treatments. Full article
(This article belongs to the Special Issue Advances in Immunogenetic Markers of Human Multifactorial Diseases)
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