Mapping the human genetic architecture of COVID-19

Картирование генетической архитектуры COVID-19 у человека
COVID-19 Host Genetics Initiative, COVID-19 Host Genetics InitiativeLeadership, Mari Niemi, Juha Karjalainen, Rachel G. Liao, Benjamin M. Neale, Mark J. Daly, Andrea Ganna, Writing group, Writing group leaders, Gita A. Pathak, Shea J. Andrews, Masahiro Kanai, Writing group members, Kumar Veerapen, Israel Fernández‐Cadenas, Eva C. Schulte, Pasquale Striano, M. Marttila, Camelia C. Minică, Eirini Marouli, Mohd Anisul Karim, Frank R. Wendt, Jeanne E. Savage, Laura Sloofman, Guillaume Butler‐Laporte, Han‐Na Kim, Stavroula Kanoni, Yukinori Okada, Jinyoung Byun, Younghun Han, Mohammed Jashim Uddin, George Davey Smith, Cristen J. Willer, Joseph D. Buxbaum, Analysis group, Manuscript analyses team leader, Manuscript analyses team member: meta-analysis, Juha Mehtonen, Manuscript analyses team member: heritability, methods and supplements, Manuscript analyses team member: PHEWAS, Manuscript analyses team member: Mendelian randomization, Manuscript analyses team member: PC projection and gene prioritization, Manuscript analyses team member: gene prioritization, Hilary K. Finucane, Manuscript analyses team member: sensitivity analysis, Mattia Cordioli, Manuscript analyses team members: PC projection, Alicia R. Martin, Wei Zhou, In silico analysis team members, Bogdan Paşaniuc, Hanna Julienne, Hugues Aschard, Huwenbo Shi, Loïc Yengo, Renato Polimanti, Maya Ghoussaini, Jeremy Schwartzentruber, Ian Dunham, Project management group, Project management leader, Project management support, Karolina Chwiałkowska, Margherita Francescatto, Amy Trankiem, Mary K. Balaconis, Phenotype steering group, Lea K. Davis, Sulggi A. Lee, James R. Priest, Alessandra Renieri, Vijay G. Sankaran, David A. van Heel, Patrick Deelen, J. Brent Richards, Tomoko Nakanishi, Les Biesecker, V. Eric Kerchberger, J. Kenneth Baillie, Data dictionary, Francesca Mari, Anna Bernasconi, Arif Canakoglu, Scientific communication group, Scientific communication leaders, Brooke Wolford, Scientific communication members, Annika Faucon, Atanu Kumar Dutta, Claudia Schurmann, Emi N. Harry, Ewan Birney, Huy Nguyen, Jamal Nasir, Mari Kaunisto, Matthew Solomonson, Nicole Dueker, Nirmal Vadgama
2021-07-08

COVID-19 host geneticsMendelian randomizationSARS-CoV-2 infection susceptibilitygenome-wide association meta-analysishuman genetic architecture
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-19 1,2 , 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 diseases 3–7 . 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.
1
A global consortium conducted three genome-wide association meta-analyses involving up to 49,562 COVID-19 patients from 46 studies across 19 countries.
2
International data and resource sharing enabled discovery of host genetic factors and provides a collaborative model for future emerging-pandemic research.
3
Mendelian randomization supported causal effects of smoking and body-mass index on severe COVID-19, but not type II diabetes.
4
Several associated loci overlap previously reported genetic links to lung, autoimmune, and inflammatory diseases, suggesting potentially actionable mechanisms.
5
The analyses identified 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 manifestations.

Human genetic architecture underlying susceptibility to SARS-CoV-2 infection and severity of COVID-19

Host genetic factors, associated loci, and causal relationships influencing SARS-CoV-2 infection and severe COVID-19 outcomes

Publication Details
Publication Date
2021-07-08
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Cited by
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Author Information
Authors
COVID-19 Host Genetics Initiative
COVID-19 Host Genetics InitiativeLeadership
Mari Niemi
Juha Karjalainen
Rachel G. Liao
Benjamin M. Neale
Mark J. Daly
Andrea Ganna
Writing group
Writing group leaders
Gita A. Pathak
Shea J. Andrews
Masahiro Kanai
Writing group members
Kumar Veerapen
Israel Fernández‐Cadenas
Eva C. Schulte
Pasquale Striano
M. Marttila
Camelia C. Minică
Eirini Marouli
Mohd Anisul Karim
Frank R. Wendt
Jeanne E. Savage
Laura Sloofman
Guillaume Butler‐Laporte
Han‐Na Kim
Stavroula Kanoni
Yukinori Okada
Jinyoung Byun
Younghun Han
Mohammed Jashim Uddin
George Davey Smith
Cristen J. Willer
Joseph D. Buxbaum
Analysis group
Manuscript analyses team leader
Manuscript analyses team member: meta-analysis
Juha Mehtonen
Manuscript analyses team member: heritability, methods and supplements
Manuscript analyses team member: PHEWAS
Manuscript analyses team member: Mendelian randomization
Manuscript analyses team member: PC projection and gene prioritization
Manuscript analyses team member: gene prioritization
Hilary K. Finucane
Manuscript analyses team member: sensitivity analysis
Mattia Cordioli
Manuscript analyses team members: PC projection
Alicia R. Martin
Wei Zhou
In silico analysis team members
Bogdan Paşaniuc
Hanna Julienne
Hugues Aschard
Huwenbo Shi
Loïc Yengo
Renato Polimanti
Maya Ghoussaini
Jeremy Schwartzentruber
Ian Dunham
Project management group
Project management leader
Project management support
Karolina Chwiałkowska
Margherita Francescatto
Amy Trankiem
Mary K. Balaconis
Phenotype steering group
Lea K. Davis
Sulggi A. Lee
James R. Priest
Alessandra Renieri
Vijay G. Sankaran
David A. van Heel
Patrick Deelen
J. Brent Richards
Tomoko Nakanishi
Les Biesecker
V. Eric Kerchberger
J. Kenneth Baillie
Data dictionary
Francesca Mari
Anna Bernasconi
Arif Canakoglu
Scientific communication group
Scientific communication leaders
Brooke Wolford
Scientific communication members
Annika Faucon
Atanu Kumar Dutta
Claudia Schurmann
Emi N. Harry
Ewan Birney
Huy Nguyen
Jamal Nasir
Mari Kaunisto
Matthew Solomonson
Nicole Dueker
Nirmal Vadgama
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