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Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.
52 auth. G. Povysil, G. Butler-Laporte, N. Shang, Chen Wang, Atlas Khan, Manal A. Alaamery, T. Nakanishi, Sirui Zhou, Vincenzo Forgetta, R. Eveleigh, M. Bourgey, N. Aziz, S. Jones, B. Knoppers, S. Scherer, ... L. Strug, P. Lepage, J. Ragoussis, G. Bourque, Jahad Alghamdi, Nora Aljawini, Nour Albes, Hani M. Al-Afghani, Bader Alghamdi, Mansour S Almutairi, E. Mahmoud, L. Abu-Safieh, Hadeel El Bardisy, F. A. Harthi, A. Alshareef, B. Suliman, S. Alqahtani, Abdulaziz M. Almalik, May M. Alrashed, S. Massadeh, V. Mooser, M. Lathrop, M. Fawzy, Y. Arabi, H. Mbarek, Chadi Saad, Wadha Al-Muftah, Junghyun Jung, S. Mangul, Radja Badji, A. A. Thani, Said I. Ismail, A. Gharavi, M. Abedalthagafi, J. B. Richards, D. Goldstein, K. Kiryluk
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequencing of …
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequencing of 1,934 COVID-19 cases (713 with severe and 1,221 with mild disease) and 15,251 ancestry-matched population controls across four independent COVID-19 biobanks. We then tested if rare pLOF variants in these 13 genes were associated with severe COVID-19. We identified only one rare pLOF mutation across these genes amongst 713 cases with severe COVID-19 and observed no enrichment of pLOFs in severe cases compared to population controls or mild COVID-19 cases. We find no evidence of association of rare loss-of-function variants in the proposed 13 candidate genes with severe COVID-19 outcomes.
Published in Journal of Clinical Investigation
1680
 5 2021