Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
WGS
genetic susceptibility
human rare genomic variants
rare variants
severe COVID-19
severe outcome of SARS-CoV-2 infection
whole-genome sequencing
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
12 Jul 2024
12 Jul 2024
Historique:
received:
03
06
2024
revised:
05
07
2024
accepted:
09
07
2024
medline:
27
7
2024
pubmed:
27
7
2024
entrez:
27
7
2024
Statut:
epublish
Résumé
Determining the genetic contribution of susceptibility to severe SARS-CoV-2 infection outcomes is important for public health measures and individualized treatment. Through intense research on this topic, several hundred genes have been implicated as possibly contributing to the severe infection phenotype(s); however, the findings are complex and appear to be population-dependent. We aimed to determine the contribution of human rare genetic variants associated with a severe outcome of SARS-CoV-2 infections and their burden in the Slovenian population. A panel of 517 genes associated with severe SARS-CoV-2 infection were obtained by combining an extensive review of the literature, target genes identified by the COVID-19 Host Genetic Initiative, and the curated Research COVID-19 associated genes from PanelApp, England Genomics. Whole genome sequencing was performed using PCR-free WGS on DNA from 60 patients hospitalized due to severe COVID-19 disease, and the identified rare genomic variants were analyzed and classified according to the ACMG criteria. Background prevalence in the general Slovenian population was determined by comparison with sequencing data from 8025 individuals included in the Slovenian genomic database (SGDB). Results show that several rare pathogenic/likely pathogenic genomic variants in genes
Identifiants
pubmed: 39062917
pii: ijms25147674
doi: 10.3390/ijms25147674
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Slovenian Research Agency
ID : P3-0326
Organisme : Slovenian Research Agency
ID : P3-0360
Organisme : Slovenian Research Agency
ID : ARRS-RPROG-JP-COVID19-Prijava/2020/091