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COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

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 vi...

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Autores principales: Latini, Andrea, Agolini, Emanuele, Novelli, Antonio, Borgiani, Paola, Giannini, Rosalinda, Gravina, Paolo, Smarrazzo, Andrea, Dauri, Mario, Andreoni, Massimo, Rogliani, Paola, Bernardini, Sergio, Helmer-Citterich, Manuela, Biancolella, Michela, Novelli, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565048/
https://www.ncbi.nlm.nih.gov/pubmed/32867305
http://dx.doi.org/10.3390/genes11091010
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author Latini, Andrea
Agolini, Emanuele
Novelli, Antonio
Borgiani, Paola
Giannini, Rosalinda
Gravina, Paolo
Smarrazzo, Andrea
Dauri, Mario
Andreoni, Massimo
Rogliani, Paola
Bernardini, Sergio
Helmer-Citterich, Manuela
Biancolella, Michela
Novelli, Giuseppe
author_facet Latini, Andrea
Agolini, Emanuele
Novelli, Antonio
Borgiani, Paola
Giannini, Rosalinda
Gravina, Paolo
Smarrazzo, Andrea
Dauri, Mario
Andreoni, Massimo
Rogliani, Paola
Bernardini, Sergio
Helmer-Citterich, Manuela
Biancolella, Michela
Novelli, Giuseppe
author_sort Latini, Andrea
collection PubMed
description 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.
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spelling pubmed-75650482020-10-26 COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells Latini, Andrea Agolini, Emanuele Novelli, Antonio Borgiani, Paola Giannini, Rosalinda Gravina, Paolo Smarrazzo, Andrea Dauri, Mario Andreoni, Massimo Rogliani, Paola Bernardini, Sergio Helmer-Citterich, Manuela Biancolella, Michela Novelli, Giuseppe Genes (Basel) Article 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. MDPI 2020-08-27 /pmc/articles/PMC7565048/ /pubmed/32867305 http://dx.doi.org/10.3390/genes11091010 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Latini, Andrea
Agolini, Emanuele
Novelli, Antonio
Borgiani, Paola
Giannini, Rosalinda
Gravina, Paolo
Smarrazzo, Andrea
Dauri, Mario
Andreoni, Massimo
Rogliani, Paola
Bernardini, Sergio
Helmer-Citterich, Manuela
Biancolella, Michela
Novelli, Giuseppe
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
title COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
title_full COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
title_fullStr COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
title_full_unstemmed COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
title_short COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
title_sort covid-19 and genetic variants of protein involved in the sars-cov-2 entry into the host cells
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565048/
https://www.ncbi.nlm.nih.gov/pubmed/32867305
http://dx.doi.org/10.3390/genes11091010
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