A catalog of associations between rare coding variants and COVID-19 outcomes.



Kosmicki, JA, Horowitz, JE, Banerjee, N, Lanche, R, Marcketta, A, Maxwell, E, Bai, X, Sun, D, Backman, JD, Sharma, D
et al (show 72 more authors) (2021) A catalog of associations between rare coding variants and COVID-19 outcomes. [Preprint]

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Abstract

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease-19 (COVID-19), a respiratory illness that can result in hospitalization or death. We investigated associations between rare genetic variants and seven COVID-19 outcomes in 543,213 individuals, including 8,248 with COVID-19. After accounting for multiple testing, we did not identify any clear associations with rare variants either exome-wide or when specifically focusing on (i) 14 interferon pathway genes in which rare deleterious variants have been reported in severe COVID-19 patients; (ii) 167 genes located in COVID-19 GWAS risk loci; or (iii) 32 additional genes of immunologic relevance and/or therapeutic potential. Our analyses indicate there are no significant associations with rare protein-coding variants with detectable effect sizes at our current sample sizes. Analyses will be updated as additional data become available, with results publicly browsable at https://rgc-covid19.regeneron.com.

Item Type: Preprint
Uncontrolled Keywords: Genetics, Rare Diseases, Vaccine Related, Prevention, Lung, Human Genome, Biodefense, 2.1 Biological and endogenous factors, 2 Aetiology, 3 Good Health and Well Being
Divisions: Faculty of Health and Life Sciences
Faculty of Health and Life Sciences > Institute of Infection, Veterinary and Ecological Sciences
Depositing User: Symplectic Admin
Date Deposited: 30 Nov 2021 08:46
Last Modified: 18 Mar 2024 03:20
DOI: 10.1101/2020.10.28.20221804
Open Access URL: https://www.medrxiv.org/content/10.1101/2020.10.28...
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3144195