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Título: | Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling |
Autor: | López-Sánchez, Macarena; Loucera, Carlos CSIC ORCID; Peña-Chilet, María CSIC ORCID; Dopazo, Joaquín CSIC ORCID | Fecha de publicación: | 15-jun-2022 | Editor: | Oxford University Press | Citación: | Human Molecular Genetics 31(12): 2078-2089 (2022) | Resumen: | Recent studies have demonstrated a relevant role of the host genetics in the coronavirus disease 2019 (COVID-19) prognosis. Most of the 7000 rare diseases described to date have a genetic component, typically highly penetrant. However, this vast spectrum of genetic variability remains yet unexplored with respect to possible interactions with COVID-19. Here, a mathematical mechanistic model of the COVID-19 molecular disease mechanism has been used to detect potential interactions between rare disease genes and the COVID-19 infection process and downstream consequences. Out of the 2518 disease genes analyzed, causative of 3854 rare diseases, a total of 254 genes have a direct effect on the COVID-19 molecular disease mechanism and 207 have an indirect effect revealed by a significant strong correlation. This remarkable potential of interaction occurs for >300 rare diseases. Mechanistic modeling of COVID-19 disease map has allowed a holistic systematic analysis of the potential interactions between the loss of function in known rare disease genes and the pathological consequences of COVID-19 infection. The results identify links between disease genes and COVID-19 hallmarks and demonstrate the usefulness of the proposed approach for future preventive measures in some rare diseases. | Versión del editor: | https://doi.org/10.1093/hmg/ddac007 | URI: | http://hdl.handle.net/10261/305430 | DOI: | 10.1093/hmg/ddac007 | ISSN: | 0964-6906 | E-ISSN: | 1460-2083 |
Aparece en las colecciones: | (IBIS) Artículos (PTI Salud Global) Colección Especial COVID-19 |
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Discovering_potential_Lopez.pdf | 876,67 kB | Adobe PDF | Visualizar/Abrir |
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