Evidence map›Paper›PMID 33398295›Full record

ArticlemedRxiv : the preprint server for health sciences2020

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.

Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, Chen Weng, Atlas Khan, Manal Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert Eveleigh and 39 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 10 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

49 authors at 15 institutions in 6 countries.

Gundula PovysilInstitute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, 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.
Chen WengDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University.
Atlas KhanDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University.
Manal AlaameryDevelopmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), 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 EveleighCanadian Centre for Computational Genomics, McGill University, Montreal, Canada.
Mathieu BourgeyCanadian Centre for Computational Genomics, McGill University, Montreal, Canada.
Naveed AzizCanadian COVID Genomics Network, HostSeq Project, Canada.
Steven JonesCanadian COVID Genomics Network, HostSeq Project, Canada.
Bartha KnoppersCanadian COVID Genomics Network, HostSeq Project, Canada.
Stephen SchererCanadian COVID Genomics Network, HostSeq Project, Canada.
Lisa StrugCanadian COVID Genomics Network, HostSeq Project, Canada.
Pierre LepageCanadian Centre for Computational Genomics, McGill University, Montreal, Canada.
Jiannis RagoussisDepartment of Human Genetics, McGill University, Montréal, Canada.
Guillaume BourqueDepartment of Human Genetics, McGill University, Montréal, Canada.
Jahad AlghamdiSaudi Biobank, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Nora AljawiniDevelopmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Nour AlbesDevelopmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Hani M Al-AfghaniLaboratory Department, Security Forces Hospital, General Directorate of Medical Services, Ministry of Interior, Clinical Laboratory Sciences, Taibah University, Madina, Saudi Arabia.
Bader AlghamdiDevelopmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Mansour AlmutairDevelopmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Ebrahim Sabri MahmoudKing Abdulaziz City for Science and Technology (KACST)-Saudi Human Genome Satellite Lab at Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Leen Abu SafieGenomics 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 AlshareefLaboratory Department, Security Forces Hospital, General Directorate of Medical Services, Ministry of Interior, Clinical Laboratory Sciences, Taibah University, Madina, Saudi Arabia.
Bandar Ali SulimanThe Liver Transplant Unit, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Saleh AlqahtaniThe Liver 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 (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Vincent MooserDepartment of Human Genetics, McGill University, Montréal, Canada.
Mark LathropDepartment of Human Genetics, McGill University, Montréal, Canada.
Yaseen ArabiKing Abdulaziz City for Science and Technology (KACST)-Saudi Human Genome Satellite Lab at Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), 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.
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 Irving Medical Center, New York, NY, 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 Irving Medical Center, New York, NY, USA.
Krzysztof KirylukInstitute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
King Abdulaziz City for Science and Technology · SAOntario Genomics · CAQatar Foundation · QAColumbia College · CAJewish General Hospital · CAKing Saud bin Abdulaziz University for Health Sciences · SAMcGill Genome Centre · CAMcGill University · CAColumbia University · USTaibah University · SAJapan Society for the Promotion of Science · JPJohns Hopkins University · USKing Faisal Specialist Hospital & Research Centre · SAKing Saud University · SAKing's College London · GB

Funding

Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
Genetic Epidemiology of Cerebrovascular Factors in Alzheimer's DiseaseRF1AG054023 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P · 2016 to 2018
$8.9M
NCATS NIH HHS UL1 TR001873NIA NIH HHS RF1 AG054023
6 · The paper itself

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 1,934 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.

Identifiers

PMID33398295
PMCPMC7781338
OpenAlexW3116211797

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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.