Abstract
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.
【초록키워드】 COVID-19, coronavirus disease, Coronavirus disease 2019, Prognosis, host genetics, rare diseases, COVID-19 disease, Consequences, COVID-19 infection, genetic variability, molecular, correlation, disease, rare disease, mechanism, Interaction, in some, preventive measure, Molecular Disease, infection process, hallmark, genetic component, MOST, downstream, systematic analysis, approach, recent, consequence, loss of function, pathological consequences, described, analyzed, identify, detect, occur, demonstrated, mathematical, with COVID-19, 【제목키워드】 COVID-19, viral infection, rare disease, Interaction, statistical,