ArticleThe Journal of clinical investigation2021
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.
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Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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52citing papers in PubMed, 2 pooled it
5.4field-weighted citation impact, top 3% of its field
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Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Genetics of COVID-19 and myalgic encephalomyelitis/chronic fatigue syndrome: a systematic review.Annals of clinical and translational neurology · 2022Pooled it
- Systematic review of host genetic association with Covid-19 prognosis and susceptibility: What have we learned in 2020?Reviews in medical virology · 2022Pooled it
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON).Human genomics · 2026Article
- Association Between Genetic Variants inDiagnostics (Basel, Switzerland) · 2025Article
- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Human genetic and immunological determinants of SARS-CoV-2 infection and multisystem inflammatory syndrome in children.Clinical and experimental immunology · 2025Review
- Systematic assessment of COVID-19 host genetics using whole genome sequencing data.PLoS pathogens · 2024Article
- Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.Journal of clinical immunology · 2024Article
- Type I interferon signaling induces a delayed antiproliferative response in respiratory epithelial cells during SARS-CoV-2 infection.Journal of virology · 2023Article
- Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients: a case series.Scientific reports · 2023Article
- Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.Annual review of biomedical data science · 2023Review
- Modulation of type I interferon responses potently inhibits SARS-CoV-2 replication and inflammation in rhesus macaques.Science immunology · 2023Article
- Genetic susceptibility to severe COVID-19.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2023Review
- TLRs: Innate Immune Sentries against SARS-CoV-2 Infection.International journal of molecular sciences · 2023Review
- Type I interferon signaling induces a delayed antiproliferative response in Calu-3 cells during SARS-CoV-2 infection.bioRxiv : the preprint server for biology · 2023Article
- Innate immune recognition against SARS-CoV-2.Inflammation and regeneration · 2023Review
- Review
- Inflammasomes: a rising star on the horizon of COVID-19 pathophysiology.Frontiers in immunology · 2023Review
- IRF7: role and regulation in immunity and autoimmunity.Frontiers in immunology · 2023Review
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Authors and funding
52 authors at 15 institutions in 6 countries.
Gundula PovysilInstitute for Genomic Medicine, Columbia University, New York, New York, USA.
Guillaume Butler-LaporteLady Davis Institute for Medical Research, Montréal, Québec, Canada.
Ning ShangDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Chen WangDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Atlas KhanDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Manal AlaameryDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Tomoko NakanishiLady Davis Institute for Medical Research, Montréal, Québec, Canada.
Sirui ZhouLady Davis Institute for Medical Research, Montréal, Québec, Canada.
Vincenzo ForgettaLady Davis Institute for Medical Research, Montréal, Québec, Canada.
Robert Jm EveleighCanadian Centre for Computational Genomics, McGill University, Montréal, Québec, Canada.
Mathieu BourgeyCanadian Centre for Computational Genomics, McGill University, Montréal, Québec, Canada.
Naveed AzizCanadian COVID Genomics Network, HostSeq Project, Canada.
Steven Jm JonesCanadian COVID Genomics Network, HostSeq Project, Canada.
Bartha KnoppersCanadian COVID Genomics Network, HostSeq Project, Canada.
Stephen W SchererCanadian COVID Genomics Network, HostSeq Project, Canada.
Lisa J StrugCanadian COVID Genomics Network, HostSeq Project, Canada.
Pierre LepageCanadian Centre for Computational Genomics, McGill University, Montréal, Québec, Canada.
Jiannis RagoussisDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.
Guillaume BourqueDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.
Jahad Alghamdi
Nora AljawiniKACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Nour AlbesKACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Hani M Al-AfghaniLaboratory Department, Security Forces Hospital, General Directorate of Medical Services, Ministry of Interior, Makkah, Saudi Arabia.
Bader AlghamdiDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Mansour S AlmutairiDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Ebrahim Sabri MahmoudMinistry of the National Guard Health Affairs, King Abdullah International Medical Research Center and King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Leen Abu-SafiehGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Hadeel El BardisyGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Fawz S Al HarthiGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Abdulraheem AlshareefCollege of Applied Medical Sciences, Taibah University, Madina, Saudi Arabia.
Bandar Ali SulimanCollege of Applied Medical Sciences, Taibah University, Madina, Saudi Arabia.
Saleh A AlqahtaniLiver Transplant Unit, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Abdulaziz AlmalikLife Science and Environmental Institute, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
May M AlrashedDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Salam MassadehDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Vincent MooserDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.
Mark LathropDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.
Mohamed FawzyGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Yaseen M ArabiMinistry of the National Guard Health Affairs, King Abdullah International Medical Research Center and King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Hamdi MbarekQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
Chadi SaadQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
Wadha Al-MuftahQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
Junghyun JungDepartment of Clinical Pharmacy, School of Pharmacy, University of Southern California, Los Angeles, California, USA.
Serghei MangulDepartment of Clinical Pharmacy, School of Pharmacy, University of Southern California, Los Angeles, California, USA.
Radja BadjiQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
Asma Al ThaniQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
Said I IsmailQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
Ali G GharaviInstitute for Genomic Medicine, Columbia University, New York, New York, USA.
Malak S AbedalthagafiGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
J Brent RichardsLady Davis Institute for Medical Research, Montréal, Québec, Canada.
David B GoldsteinInstitute for Genomic Medicine, Columbia University, New York, New York, USA.
Krzysztof KirylukInstitute for Genomic Medicine, Columbia University, New York, New York, USA.
King Abdulaziz City for Science and Technology · SAColumbia University · USOntario Genomics · CAQatar Foundation · QAKing Saud bin Abdulaziz University for Health Sciences · SAJewish General Hospital · CAMcGill Genome Centre · CAMcGill University · CATaibah University · SAUniversity of Southern California · USJohns Hopkins University · USKing Saud University · SAKing's College London · GBKyoto University · JPSecurity Forces Hospital · SA
Funding
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MGenetic Epidemiology of Cerebrovascular Factors in Alzheimer's DiseaseRF1AG054023 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P · 2016 to 2018
$8.9MNCATS NIH HHS UL1 TR001873NIA NIH HHS RF1 AG054023
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.
Indexed as
Loss of Function MutationSARS-CoV-2AdolescentAdultAgedAged, 80 and overCase-Control StudiesChildChild, PreschoolCohort StudiesCOVID-19Exome SequencingFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansInterferon Regulatory Factor-7Interferon Type IIRF7 protein, humanTLR3 protein, humanToll-Like Receptor 3GeneticsGenetic variationInfectious disease
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.