ArticlePLoS genetics2022
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Open access · goldAbstract read
In one paragraph
Article in PLoS genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 2 pooled it
11.8field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Empirically determined baseline masking strategies and other considerations for gene-level burden tests.Nature genetics · 2026Pooled it
- Common and rare variant analyses reveal genetic factors underlying idiopathic pulmonary fibrosis and its shared aetiology with severe COVID-19.EBioMedicine · 2025Pooled it
- Viral subversion of B-cell tolerance: mechanisms linking infection to autoimmunity.EMBO reports · 2026Review
- Article
- A Post-GWAS Analysis of the Shared Genetic Architecture Between COVID-19 and Coronary Artery Disease.International journal of molecular sciences · 2026Article
- Article
- The emerging role of TLR7-mediated signaling in respiratory viral infections and autoimmune diseases.Cellular and molecular life sciences : CMLS · 2026Review
- 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
- Article
- Article
- Whole-Genome Sequencing in Galicia Reveals Male-Biased Pre-Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Differential Circulating Proteomic Responses Associated with Ancestry during Severe COVID-19 Infection.Journal of proteome research · 2025Article
- Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci.Human molecular genetics · 2025Article
- Rare genetic variants and severe COVID-19 in previously healthy admixed Latin American adults.Scientific reports · 2025Article
- The next viral pandemic-where do we stand?Folia microbiologica · 2025Review
- From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.Journal of clinical immunology · 2025Article
- Toll-like receptor 7 (TLR7)-mediated antiviral response protects mice from lethal SARS-CoV-2 infection.Journal of virology · 2025Article
- Red Blood Cell-Related Phenotype-Genotype Correlations in Chronic and Acute Critical Illnesses (Traumatic Brain Injury Cohort and COVID-19 Cohort).International journal of molecular sciences · 2025Article
- Novel NUDCD1 gene variant predisposes to severe COVID-19 disease in Asians through modulation of antiviral DHX15- and MAVS-mediated signalling.Frontiers in immunology · 2025Article
- Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.International journal of molecular sciences · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
166 authors at 20 institutions in 14 countries.
Guillaume Butler-LaporteDepartment of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, Québec, Canada.ORCID 0000-0001-5388-0396
Gundula PovysilInstitute for Genomic Medicine, Columbia University, New York city, New York, United States of America.ORCID 0000-0003-4625-5909
Jack A KosmickiRegeneron Genetics Center, Tarrytown, New York, United States of America.ORCID 0000-0003-1252-6192
Elizabeth T CirulliHelix, San Mateo, California, United States of America.ORCID 0000-0001-7808-2809
Theodore DrivasDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.ORCID 0000-0002-8717-0111
Simone FuriniDepartment of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy.
Chadi SaadQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.ORCID 0000-0001-6963-9126
Axel SchmidtInstitute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.
Pawel OlszewskiIMAGENE.ME SA, Bialystok, Poland.ORCID 0000-0003-1010-8843
Urszula KorotkoIMAGENE.ME SA, Bialystok, Poland.ORCID 0000-0002-1779-8368
Mathieu QuinodozInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-9841-4433
Elifnaz ÇelikInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-0324-5228
Kousik KunduDepartment of Haematology, University of Cambridge, Cambridge, United Kingdom.ORCID 0000-0002-1019-8351
Klaudia WalterDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, United Kingdom.ORCID 0000-0003-4448-0301
Junghyun JungDepartment of Clinical Pharmacy, School of Pharmacy, University of Southern California, Los Angeles, California, United States of America.
Amy D StockwellGenentech Inc, South San Francisco, California, United States of America.
Laura G SloofmanSeaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York city, New York, United States of America.ORCID 0000-0001-7628-4378
Daniel M JordanMount Sinai Clnical Intelligence Center, Charles Bronfman Institute for Personalized Medicine, Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York city, New York, United States of America.ORCID 0000-0002-5318-8225
Ryan C ThompsonIcahn Institute of Data Science and Genomics Technology, New York city, New York, United States of America.ORCID 0000-0002-0450-8181
Diane Del ValleIcahn School of Medicine at Mount Sinai, New York city, New York, United States of America.ORCID 0000-0001-6983-5362
Nicole SimonsIcahn School of Medicine at Mount Sinai, New York city, New York, United States of America.ORCID 0000-0002-3952-1458
Esther ChengIcahn School of Medicine at Mount Sinai, New York city, New York, United States of America.
Robert SebraDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York city,New York, United States of America.
Eric E SchadtDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York city,New York, United States of America.
Seunghee Kim-SchulzeDepartment of Oncological Science, Human Immune Monitoring Center, Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York city, New York, United States of America.
Sacha GnjaticIcahn School of Medicine at Mount Sinai, New York city, New York, United States of America.
Miriam MeradPrecision Immunology Institute, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York city, New York, United States of America.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York city, New York, United States of America.
Noam D BeckmannPrecision Immunology Institute, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York city, New York, United States of America.
Alexander W CharneyMount Sinai Clinical Intelligence Center; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York city, New York, United States of America.
Bartlomiej PrzychodzenVanda Pharmaceuticals, Washington, District of Columbia, United States of America.
Timothy ChangDepartment of Neurology, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.ORCID 0000-0002-9225-9874
Tess D PottingerInstitute for Genomic Medicine, Columbia University, New York city, New York, United States of America.
Ning ShangDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York city, New York, United States of America.
Fabian BrandInstitute of Genomic Statistics and Bioinformatics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.ORCID 0000-0003-1885-7021
Francesca FavaDepartment of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy.
Francesca MariDepartment of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy.
Karolina ChwialkowskaIMAGENE.ME SA, Bialystok, Poland.ORCID 0000-0001-8053-8959
Magdalena NiemiraCentre for Clinical Research, Medical University of Bialystok, Bialystok, Poland.ORCID 0000-0002-0701-4961
Szymon PulaIMAGENE.ME SA, Bialystok, Poland.ORCID 0000-0002-5684-5358
J Kenneth BaillieRoslin Institute, University of Edinburgh, Edinburgh, United Kingdom.
Alex StuckeyGenomics England, London, United Kingdom.ORCID 0000-0001-8636-737X
Antonio SalasUnidade de Xenética, Instituto de Ciencias Forenses (INCIFOR), Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias, Hospital Clínico Universitario de Santiago (SERGAS), Santiago de Compostela, Galicia, Spain.
Xabier BelloUnidade de Xenética, Instituto de Ciencias Forenses (INCIFOR), Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias, Hospital Clínico Universitario de Santiago (SERGAS), Santiago de Compostela, Galicia, Spain.ORCID 0000-0002-4990-8496
Jacobo Pardo-SecoUnidade de Xenética, Instituto de Ciencias Forenses (INCIFOR), Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias, Hospital Clínico Universitario de Santiago (SERGAS), Santiago de Compostela, Galicia, Spain.
Alberto Gómez-CarballaUnidade de Xenética, Instituto de Ciencias Forenses (INCIFOR), Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias, Hospital Clínico Universitario de Santiago (SERGAS), Santiago de Compostela, Galicia, Spain.
Irene Rivero-CalleGenetics, Vaccines and Infections Research Group (GENVIP), Instituto de Investigación Sanitaria de Santiago, Santiago de Compostela, Spain.
Federico Martinón-TorresGenetics, Vaccines and Infections Research Group (GENVIP), Instituto de Investigación Sanitaria de Santiago, Santiago de Compostela, Spain.
Andrea GannaInstitute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
Konrad J KarczewskiStanley Center for Psychiatric Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.ORCID 0000-0003-2878-4671
Kumar VeerapenStanley Center for Psychiatric Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
Mathieu BourgeyCanadian Centre for Computational Genomics, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-8432-834X
Guillaume BourqueCanadian Centre for Computational Genomics, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-3933-9656
Robert Jm EveleighCanadian Centre for Computational Genomics, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-4147-382X
Vincenzo ForgettaLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.
David MorrisonLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.ORCID 0000-0001-8380-3615
David LanglaisMcGill Genome Center, McGill University, Montréal, Québec, Canada.ORCID 0000-0003-4429-0110
Mark LathropMcGill Genome Center, McGill University, Montréal, Québec, Canada.
Vincent MooserDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-8632-0448
Tomoko NakanishiLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.ORCID 0000-0001-9510-5646
Robert FrithiofAnaesthesiology and Intensive Care Medicine, Department of Surgical Sciences, Uppsala University, Uppsala, Sweden.ORCID 0000-0003-2278-7951
Michael HultströmDepartment of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, Québec, Canada.ORCID 0000-0003-4675-1099
Miklos LipcseyAnaesthesiology and Intensive Care Medicine, Department of Surgical Sciences, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-1976-4129
Yanara Marincevic-ZunigaDepartment of Medical Sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Jessica NordlundDepartment of Medical Sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID 0000-0001-8699-9959
Kelly M Schiabor BarrettHelix, San Mateo, California, United States of America.ORCID 0000-0001-6194-787X
William LeeHelix, San Mateo, California, United States of America.
Alexandre BolzeHelix, San Mateo, California, United States of America.ORCID 0000-0001-7399-2766
Simon WhiteHelix, San Mateo, California, United States of America.ORCID 0000-0001-6375-2363
Stephen RiffleHelix, San Mateo, California, United States of America.
Francisco TanudjajaHelix, San Mateo, California, United States of America.
Efren SandovalHelix, San Mateo, California, United States of America.
Iva NeveuxCenter for Genomic Medicine, Desert Research Institute, Reno, Nevada United States of America.
Shaun DabeRenown Health, Reno, Nevada, United States of America.ORCID 0000-0002-2494-962X
Nicolas CasadeiInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.ORCID 0000-0003-2209-0580
Susanne MotamenyWest German Genome Center, site Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0003-1186-1108
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.
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.ORCID 0000-0001-9193-0008
Nora AljawiniDevelopmental 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.ORCID 0000-0003-2736-8991
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.ORCID 0000-0001-5735-6241
Saleh A AlqahtaniLiver Transplant Unit, King Faisal Specialist Hospital and Research Centre, 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.
Amal AlmutairiGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Fatima AlqubaishiGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Sarah AlotaibiGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Albandari BinowaynGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Ebtehal A AlsolmGenomics 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.
Mohammad FawzyGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.ORCID 0000-0002-1318-9979
Fang CaiGenentech Inc, South San Francisco, California, United States of America.
Nicole SoranzoDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, United Kingdom.
Adam ButterworthDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, United Kingdom.
COVID-19 Host Genetics Initiative
DeCOI Host Genetics Group
GEN-COVID Multicenter Study (Italy)
Mount Sinai Clinical Intelligence Center
GEN-COVID consortium (Spain)
GenOMICC Consortium
Japan COVID-19 Task Force
Regeneron Genetics Center
Daniel H GeschwindDepartment of Neurology, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Stephanie ArteagaDepartment of Neurology, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.ORCID 0000-0003-1441-8849
Alexis StephensDepartment of Pediatrics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.ORCID 0000-0002-5979-6838
Manish J ButteDepartment of Pediatrics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Paul C BoutrosDepartment of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Takafumi N YamaguchiDepartment of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.ORCID 0000-0003-1082-3871
Shu TaoDepartment of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Stefan EngDepartment of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.ORCID 0000-0002-5245-6507
Timothy SandersOffice of Health Informatics and Analytics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Paul J TungOffice of Health Informatics and Analytics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Michael E BroudyOffice of Health Informatics and Analytics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Yu PanOffice of Health Informatics and Analytics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Alfredo GonzalezDepartment of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.ORCID 0000-0001-8963-3135
Nikhil ChavanOffice of Health Informatics and Analytics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Ruth JohnsonDepartment of Computer Science, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-1929-0998
Bogdan PasaniucDepartment of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, United States of America.
Brian YaspanGenentech Inc, South San Francisco, California, United States of America.ORCID 0000-0002-3787-2510
Sandra SmieszekVanda Pharmaceuticals, Washington, District of Columbia, United States of America.ORCID 0000-0002-8006-0454
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-0733-9950
Stephanie BibertInfectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.
Pierre-Yves BochudInfectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-2208-4757
Maciej DabrowskiMNM Bioscience Inc., Cambridge, Massachusetts, United States of America.ORCID 0000-0003-4150-3985
Pawel ZawadzkiMNM Bioscience Inc., Cambridge, Massachusetts, United States of America.ORCID 0000-0002-9032-2315
Mateusz SypniewskiMNM Bioscience Inc., Cambridge, Massachusetts, United States of America.
Elżbieta KajaMNM Bioscience Inc., Cambridge, Massachusetts, United States of America.ORCID 0000-0003-1277-6140
Pajaree ChariyavilaskulClinical Pharmacokinetics and Pharmacogenomics Research Unit, Department of Pharmacology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0003-1096-6020
Voraphoj NilaratanakulHealthcare-associated Infection Research Group STAR (Special Task Force for Activating Research) and Division of Infectious Diseases, Department of Medicine,Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0002-3964-5477
Nattiya HirankarnCenter of Excellence in Immunology and Immune-mediated Diseases, Department of Microbiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0003-2224-6856
Vorasuk ShotelersukCenter of Excellence for Medical Genomics, Medical Genomics Cluster, and Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0002-1856-0589
Monnat PongpanichDepartment of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0003-3228-3351
Chureerat PhokaewResearch Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0002-4246-2604
Wanna ChetruengchaiCenter of Excellence for Medical Genomics, Medical Genomics Cluster, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0003-2495-6595
Katsushi TokunagaGenome Medical Science Project, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan.
Masaya SugiyamaGenome Medical Science Project, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan.ORCID 0000-0002-9084-7197
Yosuke KawaiGenome Medical Science Project, National Center for Global Health and Medicine (NCGM), Tokyo, Japan.ORCID 0000-0003-0666-1224
Takanori HasegawaM&D Data Science Center, Tokyo Medical and Dental University, Tokyo, Japan.ORCID 0000-0001-7251-9950
Tatsuhiko NaitoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Ho NamkoongDepartment of Infectious Diseases, Keio University School of Medicine, Tokyo, Japan.ORCID 0000-0001-6181-4284
Ryuya EdahiroDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Akinori KimuraInstitute of Research, Tokyo Medical and Dental University, Tokyo, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
Takanori KanaiDivision of Gastroenterology and Hepatology, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Koichi FukunagaDivision of Pulmonary Medicine, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Seiya ImotoDivision of Health Medical Intelligence, Human Genome Center, the Institute of Medical Science, the University of Tokyo, Tokyo, Japan.
Satoru MiyanoM&D Data Science Center, Tokyo Medical and Dental University, Tokyo, Japan.ORCID 0000-0002-1753-6616
Serghei MangulDepartment of Clinical Pharmacy, School of Pharmacy, University of Southern California, Los Angeles, California, United States of America.ORCID 0000-0003-4770-3443
Malak S AbedalthagafiGenomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Hugo ZebergDepartment of Neuroscience, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0001-7118-1249
Joseph J GrzymskiCenter for Genomic Medicine, Desert Research Institute, Reno, Nevada United States of America.ORCID 0000-0003-2646-8958
Nicole L WashingtonHelix, San Mateo, California, United States of America.
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.ORCID 0000-0002-7416-9568
Kerstin U LudwigInstitute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.ORCID 0000-0002-8541-2519
Eva C SchulteInstitute of Psychiatric Phenomics and Genomics (IPPG), University Hospital, LMU Munich, Munich, Germany.ORCID 0000-0003-3105-5672
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Marcin MoniuszkoDepartment of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, Bialystok, Poland.
Miroslaw KwasniewskiIMAGENE.ME SA, Bialystok, Poland.
Hamdi MbarekQatar 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.
Anurag VermaDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.ORCID 0000-0002-5063-9107
David B GoldsteinInstitute for Genomic Medicine, Columbia University, New York city, New York, United States of America.ORCID 0000-0001-7627-0259
Krzysztof KirylukInstitute for Genomic Medicine, Columbia University, New York city, New York, United States of America.ORCID 0000-0002-5047-6715
Alessandra RenieriDepartment of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy.ORCID 0000-0002-0846-9220
Manuel A R FerreiraRegeneron Genetics Center, Tarrytown, New York, United States of America.
J Brent RichardsDepartment of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-3746-9086
University of California, Los Angeles · USKing Abdulaziz City for Science and Technology · SAIcahn School of Medicine at Mount Sinai · USHelix (United States) · USChulalongkorn University · THMedical University of Białystok · PLTokyo Medical and Dental University · JPColumbia University · USMcGill Genome Centre · CAScience Museum of Minnesota · USUniversity of Siena · ITUppsala University · SEKeio University · JPUniversidade de Santiago de Compostela · ESUniversity of Bonn · DEJewish General Hospital · CARegeneron (United States) · USUniversity of Southern California · USUniversity of Tübingen · DEVanda Pharmaceuticals (United States) · US
Funding
Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4MClinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MHigh-Dimensional Immune Monitoring of NCI-Supported Immunotherapy TrialsU24CA224319 · NCI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Sacha Gnjatic, Seunghee Kim-Schulze · 2017 to 2026
$21.5MTraining Program in Population Science of Respiratory DiseasesT32HL144442 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BARR, R GRAHAM · 2019 to 2023
$730kBritish Heart Foundation CH/12/2/29428British Heart Foundation RG/13/13/30194British Heart Foundation RG/18/13/33946Cancer Research UK C18281/A29019Medical Research Council MC_PC_20004NCATS NIH HHS UL1 TR001873NCATS NIH HHS UL1 TR001878NCI NIH HHS U24 CA224319NHLBI NIH HHS T32 HL144442
Abstract
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.
Indexed as
COVID-19ExomeGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansSARS-CoV-2Toll-Like Receptor 7Toll-Like Receptor 7
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