tetano
Editor, Senior Moderator
Sci Rep
. 2024 Aug 22;14(1):19487.
doi: 10.1038/s41598-024-70514-3. Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients
Kunka Kamenarova[SUP] 1 2 [/SUP], Darina Kachakova-Yordanova[SUP] 3 4 [/SUP], Magdalena Baymakova[SUP] 5 [/SUP], Martin Georgiev[SUP] 3 4 [/SUP], Kalina Mihova[SUP] 3 4 [/SUP], Veronika Petkova[SUP] 3 4 [/SUP], Olga Beltcheva[SUP] 3 4 [/SUP], Radka Argirova[SUP] 6 [/SUP], Petar Atanasov[SUP] 7 [/SUP], Metodi Kunchev[SUP] 8 [/SUP], Radina Andonova[SUP] 5 [/SUP], Anelia Zasheva[SUP] 5 [/SUP], Rumiana Drenska[SUP] 7 [/SUP], Ivaylo Ivanov[SUP] 7 [/SUP], Diana Pantileeva[SUP] 7 [/SUP], Vesselina Koleva[SUP] 6 [/SUP], Anton Penev[SUP] 6 [/SUP], Diana Lekova-Nikova[SUP] 6 [/SUP], Delyan Georgiev[SUP] 3 4 [/SUP], Daniela Pencheva[SUP] 3 4 [/SUP], Radosveta Bozhilova[SUP] 3 4 [/SUP], Nevyana Ivanova[SUP] 3 4 [/SUP], Ivanka Dimova[SUP] 4 [/SUP], Kamen Plochev[SUP] 5 [/SUP], Georgi Popov[SUP] 5 [/SUP], Ivan Popivanov[SUP] 9 [/SUP], Nikolay Gabrovsky[SUP] 7 [/SUP], Magdalena Leseva[SUP] 7 [/SUP], Vanio Mitev[SUP] 3 [/SUP], Radka Kaneva[SUP] 3 4 [/SUP]
Affiliations
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a pneumonia with extremely heterogeneous clinical presentation, ranging from asymptomatic to severely ill patients. Previous studies have reported links between the presence of host genetic variants and the outcome of the COVID-19 infection. In our study, we used whole exome sequencing in a cohort of 444 SARS-CoV-2 patients, admitted to hospital in the period October-2020-April-2022, to search for associations between rare pathogenic/potentially pathogenic variants and COVID-19 progression. We used gene prioritization-based analysis in genes that have been reported by host genetic studies. Although we did not identify correlation between the presence of rare pathogenic variants and COVID-19 outcome, in critically ill patients we detected known mutations in a number of genes associated with severe disease related to cardiovascular disease, primary ciliary dyskinesia, cystic fibrosis, DNA damage repair response, coagulation, primary immune disorder, hemoglobin subunit β, and others. Additionally, we report 93 novel pathogenic variants found in severely infected patients who required intubation or died. A network analysis showed main component, consisting of 13 highly interconnected genes related to epithelial cilium. In conclusion, we have detected rare pathogenic host variants that may have influenced the COVID-19 outcome in Bulgarian patients.
Keywords: COVID-19 severity and outcome; Cilia dysfunction; Host genetic variants; Rare protein-coding variants; SARS-CoV-2; WES.
. 2024 Aug 22;14(1):19487.
doi: 10.1038/s41598-024-70514-3. Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients
Kunka Kamenarova[SUP] 1 2 [/SUP], Darina Kachakova-Yordanova[SUP] 3 4 [/SUP], Magdalena Baymakova[SUP] 5 [/SUP], Martin Georgiev[SUP] 3 4 [/SUP], Kalina Mihova[SUP] 3 4 [/SUP], Veronika Petkova[SUP] 3 4 [/SUP], Olga Beltcheva[SUP] 3 4 [/SUP], Radka Argirova[SUP] 6 [/SUP], Petar Atanasov[SUP] 7 [/SUP], Metodi Kunchev[SUP] 8 [/SUP], Radina Andonova[SUP] 5 [/SUP], Anelia Zasheva[SUP] 5 [/SUP], Rumiana Drenska[SUP] 7 [/SUP], Ivaylo Ivanov[SUP] 7 [/SUP], Diana Pantileeva[SUP] 7 [/SUP], Vesselina Koleva[SUP] 6 [/SUP], Anton Penev[SUP] 6 [/SUP], Diana Lekova-Nikova[SUP] 6 [/SUP], Delyan Georgiev[SUP] 3 4 [/SUP], Daniela Pencheva[SUP] 3 4 [/SUP], Radosveta Bozhilova[SUP] 3 4 [/SUP], Nevyana Ivanova[SUP] 3 4 [/SUP], Ivanka Dimova[SUP] 4 [/SUP], Kamen Plochev[SUP] 5 [/SUP], Georgi Popov[SUP] 5 [/SUP], Ivan Popivanov[SUP] 9 [/SUP], Nikolay Gabrovsky[SUP] 7 [/SUP], Magdalena Leseva[SUP] 7 [/SUP], Vanio Mitev[SUP] 3 [/SUP], Radka Kaneva[SUP] 3 4 [/SUP]
Affiliations
- PMID: 39174791
- DOI: 10.1038/s41598-024-70514-3
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a pneumonia with extremely heterogeneous clinical presentation, ranging from asymptomatic to severely ill patients. Previous studies have reported links between the presence of host genetic variants and the outcome of the COVID-19 infection. In our study, we used whole exome sequencing in a cohort of 444 SARS-CoV-2 patients, admitted to hospital in the period October-2020-April-2022, to search for associations between rare pathogenic/potentially pathogenic variants and COVID-19 progression. We used gene prioritization-based analysis in genes that have been reported by host genetic studies. Although we did not identify correlation between the presence of rare pathogenic variants and COVID-19 outcome, in critically ill patients we detected known mutations in a number of genes associated with severe disease related to cardiovascular disease, primary ciliary dyskinesia, cystic fibrosis, DNA damage repair response, coagulation, primary immune disorder, hemoglobin subunit β, and others. Additionally, we report 93 novel pathogenic variants found in severely infected patients who required intubation or died. A network analysis showed main component, consisting of 13 highly interconnected genes related to epithelial cilium. In conclusion, we have detected rare pathogenic host variants that may have influenced the COVID-19 outcome in Bulgarian patients.
Keywords: COVID-19 severity and outcome; Cilia dysfunction; Host genetic variants; Rare protein-coding variants; SARS-CoV-2; WES.