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Host Genetics and Infectious Disease
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Host Genetics and Infectious Disease

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 (25 September 2023) | Viewed by 4886

Special Issue Editor

Dr. Veron Ramsuran

E-Mail Website
Guest Editor
College of Health Sciences, University of KwaZulu-Natal, Durban 4000, South Africa
Interests: human genetics; infectious diseases; epigenetics; polymorphisms

Special Issue Information

Dear Colleagues,

Infectious diseases have plagued mankind throughout the course of history. Despite the prevalence and the emergence of these diseases, the ability of specific human genes to confer protection and resistance has been observed. It is possible to gain new insights into the etiology of infectious diseases, as well as prospective medication targets, risk stratification, therapeutic responses, drug target sites, and vaccination programs by understanding how human genetics affect disease susceptibility. Furthermore, studies have also started to examine the host–pathogen relationship through a more all-inclusive approach. The evolution of genetic technologies have also allowed us to establish a more robust methodologies, which provide a platform for an in-depth understanding of the role of human genetics on infectious diseases.

The need for such studies is growing as new infectious diseases continue to appear.  In addition, the importance of genetic disparities between populations serve as an important area for pharmacogenomics. Within this Special Issue, we welcome manuscripts that explore the roles of human genetics regarding a range of infectious diseases.

Dr. Veron Ramsuran
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

  • infectious diseases 
  • human genetics 
  • epigenetics 
  • polymorphisms
  • host genetics

Published Papers (3 papers)

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Research

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16 pages, 1860 KiB  
Article
Polymorphisms within the SARS-CoV-2 Human Receptor Genes Associate with Variable Disease Outcomes across Ethnicities
by Theolan Adimulam, Thilona Arumugam, Anushka Naidoo, Kogieleum Naidoo and Veron Ramsuran
Genes 2023, 14(9), 1798; https://doi.org/10.3390/genes14091798 - 14 Sep 2023
Cited by 1 | Viewed by 1070
Abstract
The contribution of human genes to the variability of disease outcomes has been shown to be important across infectious diseases. Studies have shown mutations within specific human genes are associated with variable COVID-19 outcomes. We focused on the SARS-CoV-2 receptors/co-receptors to identify the [...] Read more.
The contribution of human genes to the variability of disease outcomes has been shown to be important across infectious diseases. Studies have shown mutations within specific human genes are associated with variable COVID-19 outcomes. We focused on the SARS-CoV-2 receptors/co-receptors to identify the role of specific polymorphisms within ACE2, TMPRSS2, NRP1 and CD147. Polymorphisms within ACE2 (rs2285666), TMPRSS2 (rs12329760), CD147 (rs8259) and NRP1 (rs10080) have been shown to associate with COVID-19 severity. Using cryopreserved samples from COVID-19-positive African, European and South Asian individuals within South Africa, we determined genotype frequencies. The genetic variant rs2285666 was associated with COVID-19 severity with an ethnic bias. African individuals with a CC genotype demonstrate more severe COVID-19 outcomes (OR = 7.5; 95% CI 1.164–80.89; p = 0.024) compared with those with a TT genotype. The expressions of ACE2 and SARS-CoV-2 viral load were measured using droplet digital PCR. Our results demonstrate rs2285666 and rs10080 were significantly associated with increased SARS-CoV-2 viral load and worse outcomes in certain ethnicities. This study demonstrates two important findings. Firstly, SARS-CoV-2 viral load is significantly lower in Africans compared with individuals of European and South Asian descent (p = 0.0002 and p < 0.0001). Secondly, SARS-CoV-2 viral load associates with specific SARS-CoV-2 receptor variants. A limited number of studies have examined the receptor/co-receptor genes within Africa. This study investigated genetic variants within the SARS-CoV-2 receptor/co-receptor genes and their association with COVID-19 severity and SARS-CoV-2 viral load across different ethnicities. We provide a genetic basis for differences in COVID-19 severity across ethnic groups in South Africa, further highlighting the importance of further investigation to determine potential therapeutic targets and to guide vaccination strategies that may prioritize specific genotypes. Full article
(This article belongs to the Special Issue Host Genetics and Infectious Disease)
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Review

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15 pages, 1286 KiB  
Review
Genetic Ethnic Differences in Human 2′-5′-Oligoadenylate Synthetase and Disease Associations: A Systematic Review
by Anmol Gokul, Thilona Arumugam and Veron Ramsuran
Genes 2023, 14(2), 527; https://doi.org/10.3390/genes14020527 - 19 Feb 2023
Cited by 3 | Viewed by 2054
Abstract
Recently, several studies have highlighted a skewed prevalence of infectious diseases within the African continent. Furthermore, a growing number of studies have demonstrated unique genetic variants found within the African genome are one of the contributing factors to the disease severity of infectious [...] Read more.
Recently, several studies have highlighted a skewed prevalence of infectious diseases within the African continent. Furthermore, a growing number of studies have demonstrated unique genetic variants found within the African genome are one of the contributing factors to the disease severity of infectious diseases within Africa. Understanding the host genetic mechanisms that offer protection against infectious diseases provides an opportunity to develop unique therapeutic interventions. Over the past two decades, several studies have linked the 2′-5′-oligoadenylate synthetase (OAS) family with a range of infectious diseases. More recently, the OAS-1 gene has also been associated with disease severity caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which led to a global pandemic. The OAS family serves as an antiviral factor through the interaction with Ribonuclease-Latent (RNase-L). This review explores the genetic variants observed within the OAS genes and the associations with various viral infections and how previously reported ethnic-specific polymorphisms drive clinical significance. This review provides an overview of OAS genetic association studies with a particular focus on viral diseases affecting individuals of African descent. Full article
(This article belongs to the Special Issue Host Genetics and Infectious Disease)
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Other

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13 pages, 533 KiB  
Systematic Review
A Systematic Review of the Heterogenous Gene Expression Patterns Associated with Multidrug Chemoresistance in Conventional Osteosarcoma
by Phakamani Goodman Mthethwa, Leonard Charles Marais, Veron Ramsuran and Collen Michelle Aldous
Genes 2023, 14(4), 832; https://doi.org/10.3390/genes14040832 - 30 Mar 2023
Cited by 2 | Viewed by 1416
Abstract
Multidrug chemoresistance (MDR) remains the most significant obstacle to improving survival in osteosarcoma patients. Heterogeneous genetic alterations characterise the tumour microenvironment, and host molecular markers have been associated with MDR. This systematic review examines the genetic alterations of molecular biomarkers associated with multidrug [...] Read more.
Multidrug chemoresistance (MDR) remains the most significant obstacle to improving survival in osteosarcoma patients. Heterogeneous genetic alterations characterise the tumour microenvironment, and host molecular markers have been associated with MDR. This systematic review examines the genetic alterations of molecular biomarkers associated with multidrug chemotherapy resistance in genome-wide analysis of central high-grade conventional osteosarcoma (COS). We systematically searched MEDLINE, EMBASE, Web of Science, Wiley online library and Scopus. Only human studies involving genome-wide analysis were included, while candidate gene, in vitro and animal studies were excluded. The risk of bias of the studies was assessed using the Newcastle-Ottawa Quality Assessment Scale. The systematic search identified 1355 records. Following the screening, six studies were included in the qualitative analysis. There were 473 differentially expressed genes (DEGs) associated with chemotherapy response in COS. Fifty-seven of those were associated with MDR in osteosarcoma. The heterogeneous gene expressions were related to the mechanism of MDR in osteosarcoma. The mechanisms include drug-related sensitivity genes, bone remodelling and signal transduction. Complex, variable and heterogenous gene expression patterns underpin MDR in osteosarcoma. Further research is needed to identify the most relevant alterations for prognostication and to guide the development of possible therapeutic targets. Full article
(This article belongs to the Special Issue Host Genetics and Infectious Disease)
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