{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T20:55:59Z","timestamp":1780347359069,"version":"3.54.1"},"reference-count":68,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T00:00:00Z","timestamp":1724284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T00:00:00Z","timestamp":1724284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"National Science Fund of Bulgarian Ministry of Education and Science;  Bulgarian Ministry of Education and Science","award":["\u041aP-06-DK1\/8\/2021"],"award-info":[{"award-number":["\u041aP-06-DK1\/8\/2021"]}]},{"name":"National Science Fund of Bulgarian Ministry of Education and Science;  Bulgarian Ministry of Education and Science","award":["D01\/ 285\/2019"],"award-info":[{"award-number":["D01\/ 285\/2019"]}]},{"name":"National Science Fund of Bulgarian Ministry of Education and Science;  Bulgarian Ministry of Education and Science","award":["D01-395\/2020"],"award-info":[{"award-number":["D01-395\/2020"]}]},{"name":"National Science Fund of Bulgarian Ministry of Education and Science;  Bulgarian Ministry of Education and Science","award":["D01-302\/2021"],"award-info":[{"award-number":["D01-302\/2021"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"DOI":"10.1038\/s41598-024-70514-3","type":"journal-article","created":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T09:50:40Z","timestamp":1724406640000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients"],"prefix":"10.1038","volume":"14","author":[{"given":"Kunka","family":"Kamenarova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darina","family":"Kachakova-Yordanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Baymakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Georgiev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalina","family":"Mihova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Petkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Beltcheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radka","family":"Argirova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petar","family":"Atanasov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Metodi","family":"Kunchev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radina","family":"Andonova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anelia","family":"Zasheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rumiana","family":"Drenska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivaylo","family":"Ivanov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Pantileeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vesselina","family":"Koleva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton","family":"Penev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Lekova-Nikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delyan","family":"Georgiev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Pencheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radosveta","family":"Bozhilova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nevyana","family":"Ivanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivanka","family":"Dimova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamen","family":"Plochev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgi","family":"Popov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Popivanov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolay","family":"Gabrovsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Leseva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanio","family":"Mitev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radka","family":"Kaneva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,22]]},"reference":[{"key":"70514_CR1","doi-asserted-by":"publisher","first-page":"104639","DOI":"10.1016\/j.meegid.2020.104639","volume":"87","author":"H Ali","year":"2021","unstructured":"Ali, H. et al. Outcomes of COVID-19: Disparities by ethnicity. Infect. Genet. Evol. 87, 104639. https:\/\/doi.org\/10.1016\/j.meegid.2020.104639 (2021).","journal-title":"Infect. Genet. Evol."},{"key":"70514_CR2","doi-asserted-by":"publisher","first-page":"1758","DOI":"10.1021\/acsinfecdis.2c00204","volume":"8","author":"SJR da Silva","year":"2022","unstructured":"da Silva, S. J. R. et al. Two years into the COVID-19 pandemic: Lessons learned. ACS Infect. Dis. 8, 1758\u20131814. https:\/\/doi.org\/10.1021\/acsinfecdis.2c00204 (2022).","journal-title":"ACS Infect. Dis."},{"key":"70514_CR3","doi-asserted-by":"publisher","first-page":"5372","DOI":"10.3390\/ijms22105372","volume":"22","author":"S Cantalupo","year":"2021","unstructured":"Cantalupo, S. et al. Regulatory noncoding and predicted pathogenic coding variants of CCR5 predispose to severe COVID-19. Int. J. Mol. Sci. 22, 5372. https:\/\/doi.org\/10.3390\/ijms22105372 (2021).","journal-title":"Int. J. Mol. Sci."},{"key":"70514_CR4","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1038\/s41579-020-00459-7","volume":"19","author":"B Hu","year":"2021","unstructured":"Hu, B., Guo, H., Zhou, P. & Shi, Z. L. Characteristics of SARS-CoV-2 and COVID-19. Nat. Rev. Microbiol. 19, 141\u2013154. https:\/\/doi.org\/10.1038\/s41579-020-00459-7 (2021).","journal-title":"Nat. Rev. Microbiol."},{"key":"70514_CR5","doi-asserted-by":"publisher","first-page":"103629","DOI":"10.1016\/j.ebiom.2021.103629","volume":"72","author":"TP Velavan","year":"2021","unstructured":"Velavan, T. P. et al. Host genetic factors determining COVID-19 susceptibility and severity. EBioMedicine 72, 103629. https:\/\/doi.org\/10.1016\/j.ebiom.2021.103629 (2021).","journal-title":"EBioMedicine"},{"key":"70514_CR6","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.3897\/pharmacia.70.e112550","volume":"70","author":"V Mitev","year":"2023","unstructured":"Mitev, V. Comparison of treatment of COVID-19 with inhaled bromhexine, higher doses of colchicine and hymecromone with WHO-recommended paxlovid, molnupiravir, remdesivir, anti-IL-6 receptor antibodies and baricitinib. Pharmacia 70, 1177\u20131193 (2023).","journal-title":"Pharmacia"},{"key":"70514_CR7","doi-asserted-by":"publisher","first-page":"105426","DOI":"10.1016\/j.meegid.2023.105426","volume":"110","author":"C Cappadona","year":"2023","unstructured":"Cappadona, C., Rimoldi, V., Paraboschi, E. M. & Asselta, R. Genetic susceptibility to severe COVID-19. Infect Genet Evol 110, 105426. https:\/\/doi.org\/10.1016\/j.meegid.2023.105426 (2023).","journal-title":"Infect Genet Evol"},{"key":"70514_CR8","doi-asserted-by":"publisher","first-page":"e54441","DOI":"10.7759\/cureus.54441","volume":"16","author":"A Lilov","year":"2024","unstructured":"Lilov, A., Palaveev, K. & Mitev, V. High doses of colchicine act as \u201csilver bullets\u201d against severe COVID-19. Cureus 16, e54441. https:\/\/doi.org\/10.7759\/cureus.54441 (2024).","journal-title":"Cureus"},{"key":"70514_CR9","doi-asserted-by":"publisher","first-page":"1884","DOI":"10.3390\/genes13101884","volume":"13","author":"VP Nhung","year":"2022","unstructured":"Nhung, V. P. et al. Host genetic risk factors associated with COVID-19 susceptibility and severity in Vietnamese. Genes 13, 1884 (2022).","journal-title":"Genes"},{"key":"70514_CR10","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.ajem.2022.06.015","volume":"59","author":"M Duman","year":"2022","unstructured":"Duman, M. et al. COVID-19 disease in presenting to the pediatric emergency department: A multicenter study of 8886 cases. Am. J. Emerg. Med. 59, 133\u2013140. https:\/\/doi.org\/10.1016\/j.ajem.2022.06.015 (2022).","journal-title":"Am. J. Emerg. Med."},{"key":"70514_CR11","doi-asserted-by":"publisher","first-page":"103854","DOI":"10.1016\/j.ijnurstu.2020.103854","volume":"114","author":"KO Kwok","year":"2021","unstructured":"Kwok, K. O. et al. Editor\u2019s choice: Influenza vaccine uptake, COVID-19 vaccination intention and vaccine hesitancy among nurses: A survey. Int. J. Nurs. Stud. 114, 103854. https:\/\/doi.org\/10.1016\/j.ijnurstu.2020.103854 (2021).","journal-title":"Int. J. Nurs. Stud."},{"key":"70514_CR12","doi-asserted-by":"publisher","first-page":"e1010367","DOI":"10.1371\/journal.pgen.1010367","volume":"18","author":"G Butler-Laporte","year":"2022","unstructured":"Butler-Laporte, G. et al. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the host genetics initiative. PLoS Genet. 18, e1010367. https:\/\/doi.org\/10.1371\/journal.pgen.1010367 (2022).","journal-title":"PLoS Genet."},{"key":"70514_CR13","doi-asserted-by":"publisher","first-page":"1522","DOI":"10.1056\/NEJMoa2020283","volume":"383","author":"D Ellinghaus","year":"2020","unstructured":"Ellinghaus, D. et al. Genomewide association study of severe Covid-19 with respiratory failure. N. Engl. J. Med. 383, 1522\u20131534. https:\/\/doi.org\/10.1056\/NEJMoa2020283 (2020).","journal-title":"N. Engl. J. Med."},{"key":"70514_CR14","doi-asserted-by":"publisher","first-page":"534","DOI":"10.3390\/genes13030534","volume":"13","author":"SG Shcherbak","year":"2022","unstructured":"Shcherbak, S. G. et al. Identification of genetic risk factors of severe COVID-19 using extensive phenotypic data: A proof-of-concept study in a cohort of Russian patients. Genes Basel 13, 534. https:\/\/doi.org\/10.3390\/genes13030534 (2022).","journal-title":"Genes Basel"},{"key":"70514_CR15","doi-asserted-by":"publisher","first-page":"e0576","DOI":"10.1097\/cce.0000000000000576","volume":"3","author":"N Tanimine","year":"2021","unstructured":"Tanimine, N. et al. Identification of aggravation-predicting gene polymorphisms in coronavirus disease 2019 patients using a candidate gene approach associated with multiple phase pathogenesis: A study in a Japanese city of 1 million people. Crit Care Explor 3, e0576. https:\/\/doi.org\/10.1097\/cce.0000000000000576 (2021).","journal-title":"Crit Care Explor"},{"key":"70514_CR16","doi-asserted-by":"publisher","first-page":"1152768","DOI":"10.3389\/fgene.2023.1152768","volume":"14","author":"MB Khadzhieva","year":"2023","unstructured":"Khadzhieva, M. B. et al. COVID-19 severity: Does the genetic landscape of rare variants matter?. Front. Genet. 14, 1152768. https:\/\/doi.org\/10.3389\/fgene.2023.1152768 (2023).","journal-title":"Front. Genet."},{"key":"70514_CR17","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1186\/s10020-022-00583-5","volume":"28","author":"CB Santos-Rebou\u00e7as","year":"2022","unstructured":"Santos-Rebou\u00e7as, C. B. et al. Host genetic susceptibility underlying SARS-CoV-2-associated multisystem inflammatory syndrome in Brazilian children. Mol. Med. 28, 153. https:\/\/doi.org\/10.1186\/s10020-022-00583-5 (2022).","journal-title":"Mol. Med."},{"key":"70514_CR18","doi-asserted-by":"publisher","first-page":"E1","DOI":"10.1038\/s41586-022-04826-7","volume":"608","author":"GA Pathak","year":"2022","unstructured":"Pathak, G. A. et al. A first update on mapping the human genetic architecture of COVID-19. Nature 608, E1\u2013E10. https:\/\/doi.org\/10.1038\/s41586-022-04826-7 (2022).","journal-title":"Nature"},{"key":"70514_CR19","doi-asserted-by":"publisher","unstructured":"Mapping the human genetic architecture of COVID-19. Nature 600, 472\u2013477. https:\/\/doi.org\/10.1038\/s41586-021-03767-x (2021).","DOI":"10.1038\/s41586-021-03767-x"},{"key":"70514_CR20","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1186\/s13073-022-01100-3","volume":"14","author":"CI van der Made","year":"2022","unstructured":"van der Made, C. I., Netea, M. G., van der Veerdonk, F. L. & Hoischen, A. Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19. Genome Med. 14, 96. https:\/\/doi.org\/10.1186\/s13073-022-01100-3 (2022).","journal-title":"Genome Med."},{"key":"70514_CR21","doi-asserted-by":"publisher","first-page":"e1997","DOI":"10.1002\/mgg3.1997","volume":"10","author":"K Kamenarova","year":"2022","unstructured":"Kamenarova, K. et al. Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies. Mol. Genet. Genomic Med. 10, e1997. https:\/\/doi.org\/10.1002\/mgg3.1997 (2022).","journal-title":"Mol. Genet. Genomic Med."},{"key":"70514_CR22","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","volume":"51","author":"AR Martin","year":"2019","unstructured":"Martin, A. R. et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat. Genet. 51, 1560\u20131565. https:\/\/doi.org\/10.1038\/s41588-019-0528-2 (2019).","journal-title":"Nat. Genet."},{"key":"70514_CR23","doi-asserted-by":"publisher","first-page":"244","DOI":"10.3389\/fgene.2015.00244","volume":"6","author":"S Middha","year":"2015","unstructured":"Middha, S. et al. How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples. Front. Genet. 6, 244. https:\/\/doi.org\/10.3389\/fgene.2015.00244 (2015).","journal-title":"Front. Genet."},{"key":"70514_CR24","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","volume":"40","author":"NL Sim","year":"2012","unstructured":"Sim, N. L. et al. SIFT web server: Predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 40, W452-457. https:\/\/doi.org\/10.1093\/nar\/gks539 (2012).","journal-title":"Nucleic Acids Res."},{"key":"70514_CR25","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/0471142905.hg0720s76","volume":"76","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei, I., Jordan, D. M. & Sunyaev, S. R. Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. 76, 7\u201320. https:\/\/doi.org\/10.1002\/0471142905.hg0720s76 (2013).","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"70514_CR26","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz, J. M., R\u00f6delsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575\u2013576. https:\/\/doi.org\/10.1038\/nmeth0810-575 (2010).","journal-title":"Nat. Methods"},{"key":"70514_CR27","doi-asserted-by":"publisher","first-page":"e118","DOI":"10.1093\/nar\/gkr407","volume":"39","author":"B Reva","year":"2011","unstructured":"Reva, B., Antipin, Y. & Sander, C. Predicting the functional impact of protein mutations: Application to cancer genomics. Nucleic Acids Res. 39, e118. https:\/\/doi.org\/10.1093\/nar\/gkr407 (2011).","journal-title":"Nucleic Acids Res."},{"key":"70514_CR28","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1093\/bioinformatics\/btx536","volume":"34","author":"MF Rogers","year":"2018","unstructured":"Rogers, M. F. et al. FATHMM-XF: Accurate prediction of pathogenic point mutations via extended features. Bioinformatics 34, 511\u2013513. https:\/\/doi.org\/10.1093\/bioinformatics\/btx536 (2018).","journal-title":"Bioinformatics"},{"key":"70514_CR29","doi-asserted-by":"publisher","first-page":"1536","DOI":"10.1093\/bioinformatics\/btv009","volume":"31","author":"HA Shihab","year":"2015","unstructured":"Shihab, H. A. et al. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics 31, 1536\u20131543. https:\/\/doi.org\/10.1093\/bioinformatics\/btv009 (2015).","journal-title":"Bioinformatics"},{"key":"70514_CR30","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30 (2015).","journal-title":"Genet. Med."},{"key":"70514_CR31","doi-asserted-by":"publisher","DOI":"10.1186\/s13742-015-0047-8","author":"CC Chang","year":"2015","unstructured":"Chang, C. C. et al. Second-generation PLINK: Rising to the challenge of larger and richer datasets. GigaScience https:\/\/doi.org\/10.1186\/s13742-015-0047-8 (2015).","journal-title":"GigaScience"},{"key":"70514_CR32","doi-asserted-by":"publisher","first-page":"D638","DOI":"10.1093\/nar\/gkac1000","volume":"51","author":"D Szklarczyk","year":"2022","unstructured":"Szklarczyk, D. et al. The STRING database in 2023: Protein\u2013protein association networks and functional enrichment analyses for any sequenced genome of interest. Nucleic Acids Res. 51, D638\u2013D646. https:\/\/doi.org\/10.1093\/nar\/gkac1000 (2022).","journal-title":"Nucleic Acids Res."},{"key":"70514_CR33","doi-asserted-by":"publisher","first-page":"2498","DOI":"10.1101\/gr.1239303","volume":"13","author":"P Shannon","year":"2003","unstructured":"Shannon, P. et al. Cytoscape: A software environment for integrated models of biomolecular interaction networks. Genome Res. 13, 2498\u20132504. https:\/\/doi.org\/10.1101\/gr.1239303 (2003).","journal-title":"Genome Res."},{"key":"70514_CR34","doi-asserted-by":"publisher","first-page":"3448","DOI":"10.1093\/bioinformatics\/bti551","volume":"21","author":"S Maere","year":"2005","unstructured":"Maere, S., Heymans, K. & Kuiper, M. BiNGO: A Cytoscape plugin to assess overrepresentation of gene ontology categories in biological networks. Bioinformatics 21, 3448\u20133449. https:\/\/doi.org\/10.1093\/bioinformatics\/bti551 (2005).","journal-title":"Bioinformatics"},{"key":"70514_CR35","doi-asserted-by":"crossref","unstructured":"Zeggini, E. & Morris, A. Assessing rare variation in complex traits: Design and analysis of genetic studies (2015).","DOI":"10.1007\/978-1-4939-2824-8"},{"key":"70514_CR36","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.ajhg.2008.06.024","volume":"83","author":"B Li","year":"2008","unstructured":"Li, B. & Leal, S. Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data. Am. J. Hum. Genet. 83, 311\u2013321. https:\/\/doi.org\/10.1016\/j.ajhg.2008.06.024 (2008).","journal-title":"Am. J. Hum. Genet."},{"key":"70514_CR37","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/j.ajhg.2014.06.009","volume":"95","author":"S Lee","year":"2014","unstructured":"Lee, S., Abecasis, G. R., Boehnke, M. & Lin, X. Rare-variant association analysis: Study designs and statistical tests. Am. J. Hum. Genet. 95, 5\u201323. https:\/\/doi.org\/10.1016\/j.ajhg.2014.06.009 (2014).","journal-title":"Am. J. Hum. Genet."},{"key":"70514_CR38","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1002\/gepi.20450","volume":"34","author":"AP Morris","year":"2010","unstructured":"Morris, A. P. & Zeggini, E. An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet. Epidemiol. 34, 188\u2013193. https:\/\/doi.org\/10.1002\/gepi.20450 (2010).","journal-title":"Genet. Epidemiol."},{"key":"70514_CR39","doi-asserted-by":"publisher","first-page":"534","DOI":"10.3390\/genes13030534","volume":"13","author":"SG Shcherbak","year":"2022","unstructured":"Shcherbak, S. G. et al. Identification of genetic risk factors of severe COVID-19 using extensive phenotypic data: A proof-of-concept study in a cohort of Russian patients. Genes 13, 534 (2022).","journal-title":"Genes"},{"key":"70514_CR40","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1177\/17534259211051364","volume":"27","author":"FL Mabrey","year":"2021","unstructured":"Mabrey, F. L., Morrell, E. D. & Wurfel, M. M. TLRs in COVID-19: How they drive immunopathology and the rationale for modulation. Innate Immun. 27, 503\u2013513. https:\/\/doi.org\/10.1177\/17534259211051364 (2021).","journal-title":"Innate Immun."},{"key":"70514_CR41","doi-asserted-by":"publisher","first-page":"1240245","DOI":"10.3389\/fgene.2023.1240245","volume":"14","author":"L Salihefendi\u0107","year":"2023","unstructured":"Salihefendi\u0107, L. et al. Identification of human genetic variants modulating the course of COVID-19 infection with importance in other viral infections. Front. Genet. 14, 1240245. https:\/\/doi.org\/10.3389\/fgene.2023.1240245 (2023).","journal-title":"Front. Genet."},{"key":"70514_CR42","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/s13073-023-01173-8","volume":"15","author":"D Matuozzo","year":"2023","unstructured":"Matuozzo, D. et al. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Med. 15, 22. https:\/\/doi.org\/10.1186\/s13073-023-01173-8 (2023).","journal-title":"Genome Med."},{"key":"70514_CR43","doi-asserted-by":"publisher","first-page":"1842","DOI":"10.3390\/genes12111842","volume":"12","author":"H Mbarek","year":"2021","unstructured":"Mbarek, H. et al. Poking COVID-19: Insights on genomic constraints among immune-related genes between Qatari and Italian populations. Genes (Basel) 12, 1842. https:\/\/doi.org\/10.3390\/genes12111842 (2021).","journal-title":"Genes (Basel)"},{"key":"70514_CR44","doi-asserted-by":"publisher","first-page":"1602","DOI":"10.1038\/s41431-020-0691-z","volume":"28","author":"E Benetti","year":"2020","unstructured":"Benetti, E. et al. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. Eur. J. Hum. Genet. 28, 1602\u20131614. https:\/\/doi.org\/10.1038\/s41431-020-0691-z (2020).","journal-title":"Eur. J. Hum. Genet."},{"key":"70514_CR45","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1183\/13993003.congress-2022.168","volume":"60","author":"Y Li","year":"2022","unstructured":"Li, Y., Wang, C., Chang, Y., Chen, C. & Chen, Y. Differentially expressed FOXO1, NFE2L2 and NFKB1 mRNAs are associated with differentially regulated corona- and influenza viral receptor genes and Toll-like receptor pathway genes in human bronchial epithelial cells under hyperbaric oxygen exposure. Eur. Respir. J. 60, 168. https:\/\/doi.org\/10.1183\/13993003.congress-2022.168 (2022).","journal-title":"Eur. Respir. J."},{"key":"70514_CR46","doi-asserted-by":"publisher","DOI":"10.1101\/2022.12.12.520110","author":"D Sanisha","year":"2022","unstructured":"Sanisha, D. & Suresh, K. Long COVID: G protein-coupled receptors (GPCRs) responsible for persistent post-COVID symptoms. bioRxiv https:\/\/doi.org\/10.1101\/2022.12.12.520110 (2022).","journal-title":"bioRxiv"},{"key":"70514_CR47","doi-asserted-by":"publisher","first-page":"100247","DOI":"10.1016\/j.patter.2021.100247","volume":"2","author":"S Ghandikota","year":"2021","unstructured":"Ghandikota, S., Sharma, M. & Jegga, A. G. Secondary analysis of transcriptomes of SARS-CoV-2 infection models to characterize COVID-19. Patterns (N Y) 2, 100247. https:\/\/doi.org\/10.1016\/j.patter.2021.100247 (2021).","journal-title":"Patterns (N Y)"},{"key":"70514_CR48","unstructured":"Voloudakis, G. et al. (medRxiv, 2021)."},{"key":"70514_CR49","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.jcf.2009.10.003","volume":"9","author":"L Picci","year":"2010","unstructured":"Picci, L. et al. A 10-year large-scale cystic fibrosis carrier screening in the Italian population. J. Cyst. Fibros. 9, 29\u201335. https:\/\/doi.org\/10.1016\/j.jcf.2009.10.003 (2010).","journal-title":"J. Cyst. Fibros."},{"key":"70514_CR50","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1038\/346366a0","volume":"346","author":"GR Cutting","year":"1990","unstructured":"Cutting, G. R. et al. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346, 366\u2013369. https:\/\/doi.org\/10.1038\/346366a0 (1990).","journal-title":"Nature"},{"key":"70514_CR51","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1016\/0092-8674(90)90196-l","volume":"61","author":"M Dean","year":"1990","unstructured":"Dean, M. et al. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61, 863\u2013870. https:\/\/doi.org\/10.1016\/0092-8674(90)90196-l (1990).","journal-title":"Cell"},{"key":"70514_CR52","doi-asserted-by":"publisher","first-page":"5975","DOI":"10.1038\/s41467-021-26138-6","volume":"12","author":"KL Bolton","year":"2021","unstructured":"Bolton, K. L. et al. Clonal hematopoiesis is associated with risk of severe Covid-19. Nat. Commun. 12, 5975. https:\/\/doi.org\/10.1038\/s41467-021-26138-6 (2021).","journal-title":"Nat. Commun."},{"key":"70514_CR53","doi-asserted-by":"publisher","first-page":"742","DOI":"10.1002\/humu.20321","volume":"27","author":"X Wu","year":"2006","unstructured":"Wu, X., Dong, X., Liu, W. & Chen, J. Characterization of CHEK2 mutations in prostate cancer. Hum. Mutat. 27, 742\u2013747. https:\/\/doi.org\/10.1002\/humu.20321 (2006).","journal-title":"Hum. Mutat."},{"key":"70514_CR54","doi-asserted-by":"publisher","first-page":"10369","DOI":"10.1038\/s41598-022-14035-x","volume":"12","author":"R L\u00f3pez-Rodr\u00edguez","year":"2022","unstructured":"L\u00f3pez-Rodr\u00edguez, R. et al. Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. Sci. Rep. 12, 10369. https:\/\/doi.org\/10.1038\/s41598-022-14035-x (2022).","journal-title":"Sci. Rep."},{"key":"70514_CR55","doi-asserted-by":"publisher","first-page":"989664","DOI":"10.3389\/fphar.2022.989664","volume":"13","author":"ZM Liu","year":"2022","unstructured":"Liu, Z. M., Yang, M. H., Yu, K., Lian, Z. X. & Deng, S. L. Toll-like receptor (TLRs) agonists and antagonists for COVID-19 treatments. Front. Pharmacol. 13, 989664. https:\/\/doi.org\/10.3389\/fphar.2022.989664 (2022).","journal-title":"Front. Pharmacol."},{"key":"70514_CR56","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1128\/mBio.02374-20","volume":"11","author":"M Chatterjee","year":"2020","unstructured":"Chatterjee, M., van Putten, J. P. M. & Strijbis, K. Defensive Properties of Mucin Glycoproteins during Respiratory Infections-Relevance for SARS-CoV-2. mBio 11, 7. https:\/\/doi.org\/10.1128\/mBio.02374-20 (2020).","journal-title":"mBio"},{"key":"70514_CR57","doi-asserted-by":"publisher","first-page":"4569","DOI":"10.1038\/s41467-021-24824-z","volume":"12","author":"GA Pathak","year":"2021","unstructured":"Pathak, G. A. et al. Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. Nat. Commun. 12, 4569. https:\/\/doi.org\/10.1038\/s41467-021-24824-z (2021).","journal-title":"Nat. Commun."},{"key":"70514_CR58","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1055\/s-0039-1700994","volume":"41","author":"ZS Noor","year":"2020","unstructured":"Noor, Z. S., Cummings, A. L., Johnson, M. M., Spiegel, M. L. & Goldman, J. W. Targeted therapy for non-small cell lung cancer. Semin. Respir. Crit. Care Med. 41, 409\u2013434. https:\/\/doi.org\/10.1055\/s-0039-1700994 (2020).","journal-title":"Semin. Respir. Crit. Care Med."},{"key":"70514_CR59","doi-asserted-by":"publisher","first-page":"5124","DOI":"10.3390\/ijms23095124","volume":"23","author":"T Schreiner","year":"2022","unstructured":"Schreiner, T. et al. SARS-CoV-2 infection dysregulates cilia and basal cell homeostasis in the respiratory epithelium of hamsters. Int. J. Mol. Sci. 23, 5124. https:\/\/doi.org\/10.3390\/ijms23095124 (2022).","journal-title":"Int. J. Mol. Sci."},{"key":"70514_CR60","doi-asserted-by":"publisher","first-page":"100789","DOI":"10.1016\/j.eclinm.2021.100789","volume":"33","author":"FV Gerayeli","year":"2021","unstructured":"Gerayeli, F. V. et al. COPD and the risk of poor outcomes in COVID-19: A systematic review and meta-analysis. EClinicalMedicine 33, 100789. https:\/\/doi.org\/10.1016\/j.eclinm.2021.100789 (2021).","journal-title":"EClinicalMedicine"},{"key":"70514_CR61","doi-asserted-by":"publisher","first-page":"853","DOI":"10.3390\/vaccines9080853","volume":"9","author":"M Caminati","year":"2021","unstructured":"Caminati, M. et al. COVID-19 vaccination in patients with severe asthma on biologic treatment: Safety, tolerability, and impact on disease control. Vaccines (Basel) 9, 853. https:\/\/doi.org\/10.3390\/vaccines9080853 (2021).","journal-title":"Vaccines (Basel)"},{"key":"70514_CR62","unstructured":"Bermejo-Vald\u00e9s, A. J., Padr\u00f3n-Gonz\u00e1lez, A. A. & Archer-Jim\u00e9nez, J. in Preprints (Preprints, 2020)."},{"key":"70514_CR63","doi-asserted-by":"publisher","first-page":"4354","DOI":"10.1038\/s41467-021-24521-x","volume":"12","author":"R Robinot","year":"2021","unstructured":"Robinot, R. et al. SARS-CoV-2 infection induces the dedifferentiation of multiciliated cells and impairs mucociliary clearance. Nat. Commun. 12, 4354. https:\/\/doi.org\/10.1038\/s41467-021-24521-x (2021).","journal-title":"Nat. Commun."},{"key":"70514_CR64","doi-asserted-by":"publisher","first-page":"e202108015","DOI":"10.1083\/jcb.202108015","volume":"221","author":"L Wang","year":"2022","unstructured":"Wang, L. et al. SARS-CoV-2 ORF10 impairs cilia by enhancing CUL2ZYG11B activity. J. Cell Biol. 221, e202108015. https:\/\/doi.org\/10.1083\/jcb.202108015 (2022).","journal-title":"J. Cell Biol."},{"key":"70514_CR65","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.cell.2022.11.030","volume":"186","author":"CT Wu","year":"2023","unstructured":"Wu, C. T. et al. SARS-CoV-2 replication in airway epithelia requires motile cilia and microvillar reprogramming. Cell 186, 112-130.e120. https:\/\/doi.org\/10.1016\/j.cell.2022.11.030 (2023).","journal-title":"Cell"},{"key":"70514_CR66","doi-asserted-by":"publisher","first-page":"558","DOI":"10.3390\/jpm11060558","volume":"11","author":"M Baldassarri","year":"2021","unstructured":"Baldassarri, M. et al. Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants. J. Pers. Med. 11, 558. https:\/\/doi.org\/10.3390\/jpm11060558 (2021).","journal-title":"J. Pers. Med."},{"key":"70514_CR67","doi-asserted-by":"publisher","first-page":"1270","DOI":"10.1007\/s10900-020-00920-x","volume":"45","author":"FM Noor","year":"2020","unstructured":"Noor, F. M. & Islam, M. M. Prevalence and associated risk factors of mortality among COVID-19 patients: A meta-analysis. J. Commun. Health 45, 1270\u20131282. https:\/\/doi.org\/10.1007\/s10900-020-00920-x (2020).","journal-title":"J. Commun. Health"},{"key":"70514_CR68","doi-asserted-by":"publisher","first-page":"100583","DOI":"10.1016\/j.xcrm.2022.100583","volume":"3","author":"R Earnest","year":"2022","unstructured":"Earnest, R. et al. Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA. Cell Rep. Med. 3, 100583. https:\/\/doi.org\/10.1016\/j.xcrm.2022.100583 (2022).","journal-title":"Cell Rep. Med."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-70514-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-70514-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-70514-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T10:08:25Z","timestamp":1724407705000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-70514-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,22]]},"references-count":68,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["70514"],"URL":"https:\/\/doi.org\/10.1038\/s41598-024-70514-3","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-4347522\/v1","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,22]]},"assertion":[{"value":"30 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 August 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"19487"}}