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Published on: December 23, 2020
The human genetic epidemiology of COVID-19
Mari E K Niemi1, Mark J Daly1,2,3, Andrea Ganna4,5,6
1Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Insights
Human genetics research reveals why some individuals experience severe COVID-19. Genetic studies identified key genomic regions, advancing our understanding of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and informing future infectious disease research.
Area of Science:
- Genetics
- Epidemiology
- Infectious Diseases
Background:
- Human genetics offers insights into the varying severity of coronavirus disease 2019 (COVID-19).
- Understanding individual responses to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is crucial.
Purpose of the Study:
- To identify genetic factors influencing COVID-19 severity.
- To explore the role of human genetics in the epidemiology of SARS-CoV-2 infections.
- To highlight opportunities for translating genetic findings into clinical practice and future research.
Main Methods:
- Large-scale genetic association studies were conducted.
- Both rare and common genetic variants were analyzed.
- Diverse study designs and COVID-19 phenotype definitions were employed.
Main Results:
- Several genomic regions associated with COVID-19 susceptibility and severity were identified.
- Genetic findings have enhanced the understanding of COVID-19 aetiology.
- These studies provide a foundation for managing COVID-19.
Conclusions:
- Genetic discoveries offer pathways for clinical applications like risk prediction and drug repurposing.
- Insights into host-viral interactions and immune responses are emerging.
- The study of human genetics has broad implications for managing infectious diseases beyond the current pandemic.
Abstract:
Human genetics can inform the biology and epidemiology of coronavirus disease 2019 (COVID-19) by pinpointing causal mechanisms that explain why some individuals become more severely affected by the disease upon infection by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. Large-scale genetic association studies, encompassing both rare and common genetic variants, have used different study designs and multiple disease phenotype definitions to identify several genomic regions associated with COVID-19. Along with a multitude of follow-up studies, these findings have increased our understanding of disease aetiology and provided routes for management of COVID-19. Important emergent opportunities include the clinical translatability of genetic risk prediction, the repurposing of existing drugs, exploration of variable host effects of different viral strains, study of inter-individual variability in vaccination response and understanding the long-term consequences of SARS-CoV-2 infection. Beyond the current pandemic, these transferrable opportunities are likely to affect the study of many infectious diseases.
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