Mapping the human genetic architecture of COVID-19 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-07-08

AUTHORS

Mari E. K. Niemi, Juha Karjalainen, Rachel G. Liao, Benjamin M. Neale, Mark Daly, Andrea Ganna, Lea Davis, Sulggi Lee, James Priest, Alessandra Renieri, Vijay G. Sankaran, David van Heel, Patrick Deelen, J. Brent Richards, Tomoko Nakanishi, Les Biesecker, V. Eric Kerchberger, J. Kenneth Baillie, Francesca Mari, Anna Bernasconi, Stefano Ceri Baillie, Arif Canakoglu, Xiao Chang, Joseph R. Glessner, Hakon Hakonarson

ABSTRACT

The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease. More... »

PAGES

472-477

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  • Journal

    TITLE

    Nature

    ISSUE

    7889

    VOLUME

    600

    Author Affiliations

  • Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
  • Broad Institute of MIT and Harvard, Cambridge, MA, USA
  • Massachusetts General Hospital, Broad Institute of MIT and Harvard, Cambridge, MA, USA
  • Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
  • Vanderbilt University Medical Center, Nashville, TN, USA
  • University of California San Francisco, San Francisco, CA, USA
  • Stanford University, Stanford, CA, USA
  • Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy
  • Boston Children’s Hospital, Broad Institute of MIT and Harvard, Cambridge, MA, USA
  • Blizard Institute, Queen Mary University of London, London, UK
  • Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
  • Department of Human Genetics, McGill University, Montreal, Quebec, Canada
  • Kyoto-McGill International Collaborative School in Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan
  • National Institutes of Health, Bethesda, MD, USA
  • MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK
  • Department of Electronics, Information and Bioengineering (DEIB), Politecnico di Milano, Milano, Italy
  • Politecnico di Milano, Milan, Italy
  • Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
  • Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
  • Faculty of Medicine, University of Iceland, Reykjavik, Iceland
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41586-021-03767-x

    DOI

    http://dx.doi.org/10.1038/s41586-021-03767-x

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1139486409

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34237774


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    52 schema:description The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease.
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