Genetic variability in COVID-19-related genes in the Brazilian population

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dc.creatorRodrigo Secolin
dc.creatorWilson A. Silva
dc.creatorIscia Lopes Cendes
dc.creatorTânia K. de Araujo
dc.creatorMarina Gonsales
dc.creatorCristiane S. Rocha
dc.creatorMichel Naslavsky
dc.creatorLuiz Armando Cunha de Marco
dc.creatorMaria Aparecida Camargos Bicalho
dc.creatorVinicius Vazquez
dc.creatorMayana Zatz
dc.date.accessioned2023-07-18T20:32:50Z
dc.date.accessioned2025-09-08T23:31:11Z
dc.date.available2023-07-18T20:32:50Z
dc.date.issued2021
dc.identifier.issn2054-345X
dc.identifier.urihttps://hdl.handle.net/1843/56643
dc.languagepor
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofHuman Genome Variation
dc.rightsAcesso Aberto
dc.subjectCOVID-19
dc.subjectPneumonia
dc.subject(Brasil)
dc.subject.otherCOVID-19
dc.subject.otherBrazilian
dc.subject.otherGenes
dc.titleGenetic variability in COVID-19-related genes in the Brazilian population
dc.typeArtigo de periódico
local.citation.epage9
local.citation.issue15
local.citation.spage1
local.citation.volume8
local.description.resumoSARS-CoV-2 utilizes the angiotensin-converting enzyme 2 (ACE2) receptor and transmembrane serine protease (TMPRSS2) to infect human lung cells. Previous studies have suggested that different host ACE2 and TMPRSS2 genetic backgrounds might contribute to differences in the rate of SARS-CoV-2 infection or COVID-19 severity. Recent studies have also shown that variants in 15 genes related to type I interferon immunity to influenza virus might predispose patients toward life-threatening COVID-19 pneumonia. Other genes (SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6, XCR1, IL6, CTSL, ABO, and FURIN) and HLA alleles have also been implicated in the response to infection with SARS-CoV-2. Currently, Brazil has recorded the third-highest number of COVID-19 cases worldwide. We aimed to investigate the genetic variation present in COVID-19-related genes in the Brazilian population. We analyzed 27 candidate genes and HLA alleles in 954 admixed Brazilian exomes. We used the information available in two public databases (http://www. bipmed.org and http://abraom.ib.usp.br/) and additional exomes from individuals born in southeast Brazil, the region of the country with the highest number of COVID-19 patients. Variant allele frequencies were compared with the 1000 Genomes Project phase 3 (1KGP) and gnomAD databases. We detected 395 nonsynonymous variants; of these, 325 were also found in the 1KGP and/or gnomAD. Six of these variants were previously reported to influence the rate of infection or clinical prognosis of COVID-19. The remaining 70 variants were identified exclusively in the Brazilian sample, with a mean allele frequency of 0.0025. In silico analysis revealed that seven of these variants are predicted to affect protein function. Furthermore, we identified HLA alleles previously associated with the COVID-19 response at loci DQB1 and DRB1. Our results showed genetic variability common to other populations and rare and ultrarare variants exclusively found in the Brazilian population. These findings might lead to differences in the rate of infection or response to infection by SARS-CoV-2 and should be further investigated in patients with this disease.
local.identifier.orcidhttps://orcid.org/0000-0002-2485-9560
local.identifier.orcidhttps://orcid.org/0000-0002-6221-6822
local.identifier.orcidhttps://orcid.org/0000-0002-9068-1713
local.identifier.orcidhttps://orcid.org/0000-0002-1161-8936
local.identifier.orcidhttps://orcid.org/0000-0001-6298-9377
local.identifier.orcidhttps://orcid.org/0000-0002-0325-5514
local.identifier.orcidhttps://orcid.org/0000-0003-3970-8025
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE CIRURGIA
local.publisher.departmentMED - DEPARTAMENTO DE CLÍNICA MÉDICA
local.publisher.initialsUFMG
local.url.externahttps://www.nature.com/articles/s41439-021-00146-w

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