| Literature DB >> 34043590 |
Gundula Povysil1, Guillaume Butler-Laporte2,3, Ning Shang4, Chen Wang4, Atlas Khan4, Manal Alaamery5,6, Tomoko Nakanishi2,7,8, Sirui Zhou2, Vincenzo Forgetta2, Robert Jm Eveleigh9,10, Mathieu Bourgey9,10, Naveed Aziz11, Steven Jm Jones11, Bartha Knoppers11, Stephen W Scherer11, Lisa J Strug11, Pierre Lepage9, Jiannis Ragoussis7,9, Guillaume Bourque7,10,9, Jahad Alghamdi, Nora Aljawini12, Nour Albes12, Hani M Al-Afghani13, Bader Alghamdi5, Mansour S Almutairi5, Ebrahim Sabri Mahmoud14, Leen Abu-Safieh15, Hadeel El Bardisy15, Fawz S Al Harthi15, Abdulraheem Alshareef16, Bandar Ali Suliman16, Saleh A Alqahtani17,18, Abdulaziz Almalik19, May M Alrashed20, Salam Massadeh5,6, Vincent Mooser7, Mark Lathrop7,11,9, Mohamed Fawzy15, Yaseen M Arabi14, Hamdi Mbarek21, Chadi Saad21, Wadha Al-Muftah21, Junghyun Jung22,23, Serghei Mangul22, Radja Badji21, Asma Al Thani21, Said I Ismail21, Ali G Gharavi1,4,24, Malak S Abedalthagafi15, J Brent Richards2,3,8,25, David B Goldstein1,26, Krzysztof Kiryluk1,4.
Abstract
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 1,864 COVID-19 cases (713 with severe and 1,151 with mild disease) and 15,033 ancestry-matched population controls across 4 independent COVID-19 biobanks. We tested whether rare pLOF variants in these 13 genes were associated with severe COVID-19. We identified only 1 rare pLOF mutation across these genes among 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 found no evidence of association of rare LOF variants in the 13 candidate genes with severe COVID-19 outcomes.Entities:
Keywords: Genetic variation; Genetics; Infectious disease
Year: 2021 PMID： 34043590 DOI： 10.1172/JCI147834
Source DB: PubMed Journal: J Clin Invest ISSN： 0021-9738 Impact factor: 14.808