Presence of rare potential pathogenic variants in subjects under 60 years old with very severe or fatal COVID-19
European Journal of Human Genetics
; 31(Supplement 1):343, 2023.
Artículo
en Inglés
| EMBASE | ID: covidwho-20238897
ABSTRACT
Background/Objectives:
Genetic variants affecting host defense against pathogens may help explain COVID-19 fatal outcomes. Our aim was to identify rare genetic variants related to COVID-19 severity in a selected group of patients under 60 years who required intubation or resulting in death. Method(s) Forty-four very severe COVID-19 patients were selected from the Spanish STOP-Coronavirus cohort, which comprises more than 3,500 COVID-19 patients. Genotype was performed by whole exome sequencing and variants were selected by using a gene panel of 867 candidate genes (immune response, primary immunodeficiencies or coagulation, among other). Variants were filtered, priorized and their potential pathogenicity was assessed following ACGM criteria. Result(s) We detected 44 different variants of interest, in 29 different patients (66%). Some of these variants were previously described as pathogenic (26%). Mostly, the candidate variants were located in genes related to immune response (38%), congenital disorders of glycosylation (14%) or damaged DNA binding genes (9%). A network analysis, showed three main components, consisting of 25 highly interconnected genes related to immune response and two additional networks enriched in carbohydrate metabolism and in DNA metabolism and repair processes. Conclusion(s) The variants identified affect different, but interrelated, functional pathways such as immune response and glycosylation. Further studies are needed for confirming the ultimate role of the new candidate genes described in the present study on COVID-19 severity.
adult; carbohydrate metabolism; cohort analysis; conference abstract; congenital disorder of glycosylation; controlled study; coronavirus disease 2019; DNA binding; DNA metabolism; female; genetic variability; genotype; glycosylation; human; immune deficiency; immune response; intubation; major clinical study; male; network analysis; nonhuman; pathogenicity; variant of interest; whole exome sequencing
Texto completo:
Disponible
Colección:
Bases de datos de organismos internacionales
Base de datos:
EMBASE
Tipo de estudio:
Estudio de cohorte
/
Estudio observacional
/
Estudio pronóstico
Tópicos:
Variantes
Idioma:
Inglés
Revista:
European Journal of Human Genetics
Año:
2023
Tipo del documento:
Artículo
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