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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...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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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. |
format | Online Article Text |
id | pubmed-7565048 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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