| Title: | Genomic landscape of susceptibility to severe Covid-19 in the Slovenian population |
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| Authors: | ID Kovanda, Anja (Author)
ID Lukežič, Tadeja (Author)
ID Maver, Aleš (Author)
ID Vokač Križaj, Hana (Author)
ID Čižek-Sajko, Mojca (Author)
ID Šelb, Julij (Author)
ID Rijavec, Matija (Author)
ID Bitežnik, Barbara (Author)
ID Rituper, Boštjan (Author)
ID Korošec, Peter (Author)
ID Peterlin, Borut (Author) |
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| Files: |  PDF - Presentation file, download (1,58 MB)
MD5: 4EBE5330FD8D7C6D9BF42ABF96BBD7B9
 URL - Source URL, visit https://www.mdpi.com/1422-0067/25/14/7674
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| 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 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 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 a severe COVID-19 outcome. |
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| Keywords: | severe COVID-19, severe outcome of SARS-CoV-2 infection, whole-genome sequencing, genetic susceptibility, rare variants, human rare genomic variants |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2024 |
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| Number of pages: | str. 1-16 |
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| Numbering: | Vol. 25, iss. 14, [article no.] 7674 |
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| PID: | 20.500.12556/DiRROS-29989  |
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| UDC: | 616.9 |
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| ISSN on article: | 1422-0067 |
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| DOI: | 10.3390/ijms25147674 |
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| COBISS.SI-ID: | 204417283 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 15. 8. 2024;
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| Publication date in DiRROS: | 11.06.2026 |
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| Views: | 67 |
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| Downloads: | 49 |
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