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Human genetic determinants of COVID-19 in Brazil: challenges and future plans

Authors :
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Brasil)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil)
Instituto Nacional de Genética Médica Populacional (Brasil)
Hospital de Clínicas de Porto Alegre
Fundo de Incentivo à Pesquisa e Eventos (Brasil)
Fam, Bibiana S de Oliveira
Feira, Marilea Furtado
Cadore, Nathan Araujo
Sbruzzi, Renan
Hünemeier, Tábita
Abel, Laurent
Zhang, Qian
Casanova, Jean-Laurent
Vianna, Fernanda Sales Luiz
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Brasil)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil)
Instituto Nacional de Genética Médica Populacional (Brasil)
Hospital de Clínicas de Porto Alegre
Fundo de Incentivo à Pesquisa e Eventos (Brasil)
Fam, Bibiana S de Oliveira
Feira, Marilea Furtado
Cadore, Nathan Araujo
Sbruzzi, Renan
Hünemeier, Tábita
Abel, Laurent
Zhang, Qian
Casanova, Jean-Laurent
Vianna, Fernanda Sales Luiz
Publication Year :
2023

Abstract

COVID-19 pandemic represented a worldwide major challenge in different areas, and efforts undertaken by the scientific community led to the understanding of some of the genetic determinants that influence the different COVID-19 outcomes. In this paper, we review the studies about the role of human genetics in COVID-19 severity and how Brazilian studies also contributed to those findings. Rare variants in genes related to Inborn Errors of Immunity (IEI) in the type I interferons pathway, and its phenocopies, have been described as being causative of severe outcomes. IEI and its phenocopies are present in Brazil, not only in COVID-19 patients, but also in autoimmune conditions and severe reactions to yellow fever vaccine. In addition, studies focusing on common variants and GWAS studies encompassing worldwide patients have found several loci associated with COVID-19 severity. A GWAS study including only Brazilian COVID-19 patients identified a new locus 1q32.1 associated with COVID-19 severity. Thus, more comprehensive studies considering the Brazilian genomic diversity should be performed, since they can help to reveal not only what are the genetic determinants that contribute to the different outcomes for COVID-19 in the Brazilian population, but in the understanding of human genetics in different health conditions.

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1431968317
Document Type :
Electronic Resource