Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

ABSTRACT: Rare variants affecting host defense against pathogens could be involved in COVID-19 severity and may help explain fatal outcomes in young and middle-aged patients. Our aim was to report the presence of rare genetic variants in certain genes, by using whole exome sequencing, in a selected group of COVID-19 patients under 65 years who required intubation or resulting in death (n = 44). To this end, different etiopathogenic mechanisms were explored using gene prioritization-based analysis in which genes involved in immune response, immunodeficiencies or blood coagulation were studied. We detected 44 different variants of interest, in 29 different patients (66%). Some of these variants were previously described as pathogenic and were located in genes mainly involved in immune response. A netw

SUBMITTER: Lopez-Rodriguez R 

PROVIDER: S-EPMC9208539 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature