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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/56643
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dc.creatorRodrigo Secolinpt_BR
dc.creatorWilson A. Silvapt_BR
dc.creatorIscia Lopes Cendespt_BR
dc.creatorTânia K. de Araujopt_BR
dc.creatorMarina Gonsalespt_BR
dc.creatorCristiane S. Rochapt_BR
dc.creatorMichel Naslavskypt_BR
dc.creatorLuiz Armando Cunha de Marcopt_BR
dc.creatorMaria Aparecida Camargos Bicalhopt_BR
dc.creatorVinicius Vazquezpt_BR
dc.creatorMayana Zatzpt_BR
dc.date.accessioned2023-07-18T20:32:50Z-
dc.date.available2023-07-18T20:32:50Z-
dc.date.issued2021-
dc.citation.volume8pt_BR
dc.citation.issue15pt_BR
dc.citation.spage1pt_BR
dc.citation.epage9pt_BR
dc.identifier.issn2054-345Xpt_BR
dc.identifier.urihttp://hdl.handle.net/1843/56643-
dc.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.pt_BR
dc.languageporpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE CIRURGIApt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE CLÍNICA MÉDICApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofHuman Genome Variationpt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectCOVID-19pt_BR
dc.subjectBrazilianpt_BR
dc.subjectGenespt_BR
dc.subject.otherCOVID-19pt_BR
dc.subject.otherPneumoniapt_BR
dc.subject.other(Brasil)pt_BR
dc.titleGenetic variability in COVID-19-related genes in the Brazilian populationpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://www.nature.com/articles/s41439-021-00146-wpt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-2485-9560pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-6221-6822pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-9068-1713pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-1161-8936pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-6298-9377pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-0325-5514pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-3970-8025pt_BR
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