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  • Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling #MMPMID35022696
  • Lopez-Sanchez M; Loucera C; Pena-Chilet M; Dopazo J
  • Hum Mol Genet 2022[Jun]; 31 (12): 2078-2089 PMID35022696show ga
  • 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.
  • |*COVID-19/genetics[MESH]
  • |*Virus Diseases[MESH]
  • |Humans[MESH]
  • |Models, Statistical[MESH]
  • |Rare Diseases/genetics[MESH]

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  • suck abstract from ncbi

    2078 12.31 2022