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Host Genetics in Susceptibility to Infectious Diseases
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Host Genetics in Susceptibility to Infectious Diseases

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

Deadline for manuscript submissions: closed (1 November 2020) | Viewed by 15712

Special Issue Editor

Dr. Ozren Polašek

E-Mail Website
Guest Editor
School of Medicine, University of Split, 21000 Split, Croatia
Interests: Genetics; public health; biobanking
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The recent COVID-19 pandemic has made us painfully aware of the power and evolutionary pressure of infectious diseases. In the past, such episodes resulted in devastating losses, commonly affecting young children. The widespread use of vaccines and antibiotics has reduced this evolutionary pressure, ensuring better survival and contributing to extending the life expectancy of humans. Yet, as an effect, we have retained deleterious genetic variants that were previously purged from the population. Such variants are now masked by the infection control measures and lie dormant until (re-)emerging epidemics manages to expose them. In contrast to complex traits, genetics are substantially plagued by the lack of replication, and therefore have a low predictive power; most genetic susceptibility variance for infectious diseases is believed to be controlled by the rare monogenic variants. This provides several interesting opportunities, including the ability to develop better predictive tools, which can be used in the assessment of an individual’s life-long susceptibility to an infectious disease. This is at the very core of the Special Issue of Genes, where we would like to invite researchers to contribute to understanding the host genetic effects for infectious diseases’ susceptibility. Special focus will be placed on studies that provide a methodological step forward over simple case-control studies, by addressing the problems related to the selection and assessment of controls; studies focusing on serological results for manifest and latent infections; and studies that utilize large sample sizes from the existing biobanks. Ultimately, we want to develop a knowledge base that will enable us to better understand the infectious diseases’ pathogenesis, by analyzing pathogen-specific and joint pathways that predispose and make individuals more or less susceptible to infection, infectious disease development and severity, and eventually mortality.

Dr. Ozren Polašek
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. 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

  • genetics
  • genetics susceptability
  • host
  • pathogen
  • infectious disease
  • prediction models
  • epidemics
  • serological results

Published Papers (3 papers)

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Research

14 pages, 775 KiB  
Article
Gene Polymorphisms of TLR4 and TLR9 and Haemophilus influenzae Meningitis in Angolan Children
by Elina Tenhu, Johanna Teräsjärvi, Manuel Leite Cruzeiro, Okko Savonius, Emilie Rugemalira, Irmeli Roine, Qiushui He and Tuula Pelkonen
Genes 2020, 11(9), 1099; https://doi.org/10.3390/genes11091099 - 21 Sep 2020
Cited by 4 | Viewed by 2508
Abstract
Bacterial meningitis (BM) is a severe disease caused by various bacterial pathogens. Toll-like receptors (TLRs) protect humans from invading pathogens. In this study, we determined whether single nucleotide polymorphisms (SNPs) of TLR4 and TLR9 are associated with susceptibility to and outcome of BM [...] Read more.
Bacterial meningitis (BM) is a severe disease caused by various bacterial pathogens. Toll-like receptors (TLRs) protect humans from invading pathogens. In this study, we determined whether single nucleotide polymorphisms (SNPs) of TLR4 and TLR9 are associated with susceptibility to and outcome of BM in Angolan children. Samples were taken from 241 patients and 265 age-matched ethnic controls. The SNPs TLR4 rs4986790 (896A > G) and TLR9 rs187084 (−1486T > C) were determined by high-resolution melting analysis (HRMA). The frequency of variant genotypes in TLR4 was significantly higher in patients with Haemophilus influenzae meningitis than controls (odds ratio (OR), 2.5; 95% confidence interval (CI), 1.2–5.4; p = 0.021), whereas the frequency of variant genotypes in TLR9 was significantly lower in patients with H. influenzae meningitis than controls (OR, 0.4; 95% CI, 0.2–0.9; p = 0.036). No such differences were found with other causative pathogens, such as Streptococcus pneumoniae and Neisseria meningitidis. At the time of discharge, patients with meningitis caused by Gram-negative bacteria who were carriers of variant TLR4 genotypes had a higher risk of ataxia (OR, 12.91; 95% CI, 1.52–109.80; p = 0.019) and other neurological sequelae (OR, 11.85; 95% CI, 1.07–131.49; p = 0.044) than those with the wild-type TLR4 genotype. Our study suggests an association between H. influenzae meningitis and genetic variation between TLR4 and TLR9 in Angolan children. Full article
(This article belongs to the Special Issue Host Genetics in Susceptibility to Infectious Diseases)
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8 pages, 236 KiB  
Article
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
by Andrea Latini, Emanuele Agolini, Antonio Novelli, Paola Borgiani, Rosalinda Giannini, Paolo Gravina, Andrea Smarrazzo, Mario Dauri, Massimo Andreoni, Paola Rogliani, Sergio Bernardini, Manuela Helmer-Citterich, Michela Biancolella and Giuseppe Novelli
Genes 2020, 11(9), 1010; https://doi.org/10.3390/genes11091010 - 27 Aug 2020
Cited by 84 | Viewed by 10443
Abstract
The recent global COVID-19 public health emergency is caused by SARS-CoV-2 infections and can manifest extremely variable clinical symptoms. Host human genetic variability could influence susceptibility and response to infection. It is known that ACE2 acts as a receptor for this pathogen, but [...] Read more.
The recent global COVID-19 public health emergency is caused by SARS-CoV-2 infections and can manifest extremely variable clinical symptoms. Host human genetic variability could influence susceptibility and response to infection. It is known that ACE2 acts as a receptor for this pathogen, but the viral entry into the target cell also depends on other proteins. The aim of this study was to investigate the variability of genes coding for these proteins involved in the SARS-CoV-2 entry into the cells. We analyzed 131 COVID-19 patients by exome sequencing and examined the genetic variants of TMPRSS2, PCSK3, DPP4, and BSG genes. In total we identified seventeen variants. In PCSK3 gene, we observed a missense variant (c.893G>A) statistically more frequent compared to the EUR GnomAD reference population and a missense mutation (c.1906A>G) not found in the GnomAD database. In TMPRSS2 gene, we observed a significant difference in the frequency of c.331G>A, c.23G>T, and c.589G>A variant alleles in COVID-19 patients, compared to the corresponding allelic frequency in GnomAD. Genetic variants in these genes could influence the entry of the SARS-CoV-2. These data also support the hypothesis that host genetic variability may contribute to the variability in infection susceptibility and severity. Full article
(This article belongs to the Special Issue Host Genetics in Susceptibility to Infectious Diseases)
8 pages, 722 KiB  
Communication
TLR4 Polymorphism, Nasopharyngeal Bacterial Colonization, and the Development of Childhood Asthma: A Prospective Birth-Cohort Study in Finnish Children
by Johanna T. Teräsjärvi, Laura Toivonen, Juho Vuononvirta, Jussi Mertsola, Ville Peltola and Qiushui He
Genes 2020, 11(7), 768; https://doi.org/10.3390/genes11070768 - 08 Jul 2020
Cited by 10 | Viewed by 2029
Abstract
We aimed to explore the role of TLR4 (rs4986790) polymorphism in the nasopharyngeal (NP) bacterial colonization and its consequent impact on the development of childhood asthma. A semi-quantitative culture of NP swabs was performed on 473 children at 2 months of age and [...] Read more.
We aimed to explore the role of TLR4 (rs4986790) polymorphism in the nasopharyngeal (NP) bacterial colonization and its consequent impact on the development of childhood asthma. A semi-quantitative culture of NP swabs was performed on 473 children at 2 months of age and on 213 children at 13 months of age. TLR4 polymorphism was analyzed for 396 children. Children were followed from birth to the age of 7.5 years and the final outcome was physician-diagnosed asthma. The associations between TLR4 genotype, bacterial colonization, and asthma were analyzed. Children with TLR4 AG or GG genotype were more often colonized with Moraxella catarrhalis at 2 months of age (p = 0.009) and Haemophilus influenzae at 13 months of age (p = 0.018). Children who were colonized with H. influenzae at 13 months of age had a significantly higher risk of later development of asthma (p = 0.004). M. catarrhalis or H. Influenzae colonization at 2 months of age or TLR4 genotype Asp299Gly were not associated with the development of childhood asthma. TLR4 Asp299Gly polymorphism was associated with an increased risk of colonization of M. catarrhalis and H. influenzae in children. The colonization with H. influenzae at 13 months of age was associated with a higher risk of later development of childhood asthma. Full article
(This article belongs to the Special Issue Host Genetics in Susceptibility to Infectious Diseases)
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