Version 1
: Received: 4 June 2024 / Approved: 5 June 2024 / Online: 6 June 2024 (07:30:51 CEST)
How to cite:
Kovanda, A.; Lukežič, T.; Maver, A.; Vokač Križaj, H.; Čižek Sajko, M.; Šelb, J.; Rijavec, M.; Bidovec-Stojković, U.; Bitežnik, B.; Rituper, B.; Korošec, P.; Peterlin, B. Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population. Preprints2024, 2024060327. https://doi.org/10.20944/preprints202406.0327.v1
Kovanda, A.; Lukežič, T.; Maver, A.; Vokač Križaj, H.; Čižek Sajko, M.; Šelb, J.; Rijavec, M.; Bidovec-Stojković, U.; Bitežnik, B.; Rituper, B.; Korošec, P.; Peterlin, B. Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population. Preprints 2024, 2024060327. https://doi.org/10.20944/preprints202406.0327.v1
Kovanda, A.; Lukežič, T.; Maver, A.; Vokač Križaj, H.; Čižek Sajko, M.; Šelb, J.; Rijavec, M.; Bidovec-Stojković, U.; Bitežnik, B.; Rituper, B.; Korošec, P.; Peterlin, B. Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population. Preprints2024, 2024060327. https://doi.org/10.20944/preprints202406.0327.v1
APA Style
Kovanda, A., Lukežič, T., Maver, A., Vokač Križaj, H., Čižek Sajko, M., Šelb, J., Rijavec, M., Bidovec-Stojković, U., Bitežnik, B., Rituper, B., Korošec, P., & Peterlin, B. (2024). Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population. Preprints. https://doi.org/10.20944/preprints202406.0327.v1
Chicago/Turabian Style
Kovanda, A., Peter Korošec and Borut Peterlin. 2024 "Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population" Preprints. https://doi.org/10.20944/preprints202406.0327.v1
Abstract
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 through an extensive review of the literature, and additionally included target genes identified by the COVID-19 Host Genetic Initiative, as well as 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 CFTR, MASP2, MEFV, TNFRSF13B, and RNASEL likely contribute to the severe infection outcomes in our patient cohort. These results represent an insight into the Slovenian genomic diversity associated with severe COVID-19 outcome.
Keywords
severe COVID-19; severe outcome of SARS-CoV-2 infection; whole-genome sequencing; WGS; genetic susceptibility; rare variants; human rare genomic variants
Subject
Medicine and Pharmacology, Other
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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