Human genetic determinants of COVID-19 in Brazil: challenges and future plans.
Bibiana Sampaio de Oliveira FamMarilea Furtado FeiraNathan Araujo CadoreRenan SbruzziTábita HünemeierLaurent AbelQian ZhangJean Laurent CasanovaFernanda Sales Luiz ViannaPublished in: Genetics and molecular biology (2024)
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.
Keyphrases
- sars cov
- coronavirus disease
- genome wide
- endothelial cells
- copy number
- respiratory syndrome coronavirus
- healthcare
- end stage renal disease
- mental health
- public health
- chronic kidney disease
- early onset
- pluripotent stem cells
- emergency department
- ejection fraction
- gene expression
- skeletal muscle
- current status
- adipose tissue
- patient safety
- prognostic factors
- genome wide association study
- transcription factor
- social media
- electronic health record
- patient reported outcomes
- genome wide association