Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Human TMPRSS2 and ACE2 Genetic Variability on COVID-19 Outcomes in Patients From Brazil

Felipe Pantoja Mesquita
,
Jean Breno Silveira Da Silva
,
Laís Lacerda Brasil De Oliveira
,
Luina Benevides Lima
,
Pedro Filho Noronha Souza
* ORCID logo ,
Emerson Lucena Silva
,
Silviane Praciano Bandeira
,
Ludmilla Aline Guimarães Moreira Farias
,
Clarisse Mourão Melo Ponte
,
Maria Helane Costa Gurgel Castelo
,
Lilian Loureiro Albuquerque Cavalcante
,
Caroline Aquino Moreira-Nunes
ORCID logo ,
Maria Elisabete Amaral De Morais
,
Raquel Carvalho Montenegro
Version 1 : Received: 23 October 2023 / Approved: 24 October 2023 / Online: 25 October 2023 (05:25:34 CEST)

How to cite: Mesquita, F.P.; Da Silva, J.B.S.; De Oliveira, L.L.B.; Lima, L.B.; Souza, P.F.N.; Silva, E.L.; Bandeira, S.P.; Farias, L.A.G.M.; Ponte, C.M.M.; Castelo, M.H.C.G.; Cavalcante, L.L.A.; Moreira-Nunes, C.A.; De Morais, M.E.A.; Montenegro, R.C. Human TMPRSS2 and ACE2 Genetic Variability on COVID-19 Outcomes in Patients From Brazil. Preprints 2023, 2023101542. https://doi.org/10.20944/preprints202310.1542.v1 Mesquita, F.P.; Da Silva, J.B.S.; De Oliveira, L.L.B.; Lima, L.B.; Souza, P.F.N.; Silva, E.L.; Bandeira, S.P.; Farias, L.A.G.M.; Ponte, C.M.M.; Castelo, M.H.C.G.; Cavalcante, L.L.A.; Moreira-Nunes, C.A.; De Morais, M.E.A.; Montenegro, R.C. Human TMPRSS2 and ACE2 Genetic Variability on COVID-19 Outcomes in Patients From Brazil. Preprints 2023, 2023101542. https://doi.org/10.20944/preprints202310.1542.v1

Abstract

Angiotensin-converting enzyme 2 (ACE2) and the transmembrane serine protease 2 (TMPRSS2) are recognized as entry proteins of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and recently their Single Nucleotide Polymorphisms (SNP) have been studied in different populations to elucidate the impact on disease. The aim of this study was to evaluate the genetic SNP of ACE2 (rs35803318) and TMPRSS2 (rs2070788) genes in COVID-19 patients from Northeast Brazil compared with global populations, as well as the expression quantitative trait locus (eQTL). For ACE2 (rs35803318), we found 92.6% CC, 3.4% CT, and 4.0% TT genotype carriers in SARS-CoV-2-positive patients. Surprisingly, only the genotype frequencies of ACE2 SNP were not in Hardy-Weinberg equilibrium. For TMPRSS2 rs2070788, we found 22.3% GG, 50.7% AG, and 27% AA genotype carriers in SARS-CoV-2-positive patients. The expression quantitative trait loci (eQTLs) revealed that rs35803318 was associated with an altered PIR gene expression, and rs2070788 was found eQTLs association only with lung tissue. No significant association was identified between the genotype distribution of SNPs and the 'patient's outcome. In conclusion, our results suggest that ACE2 and TMPRSS2 may not be protective factors for global populations, including the Brazilian population, since the presence of SNPs does not affect the 'patient's outcome as described by other studies.

Keywords

COVID-19; ACE2; TMPRSS2; polymorphisms; coronaviruses

Subject

Biology and Life Sciences, Virology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0
Metrics 0
Get PDF Cite Share 0
Bookmark BibSonomy Mendeley Reddit Delicious
×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.