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10 août 2023
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info:eu-repo/semantics/altIdentifier/doi/10.1146/annurev-biodatasci-020222-021705
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info:eu-repo/semantics/altIdentifier/pmid/37196358
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info:eu-repo/semantics/altIdentifier/eissn/2574-3414
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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FAD92BD97EE43
info:eu-repo/semantics/openAccess , CC BY 4.0 , https://creativecommons.org/licenses/by/4.0/
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Pneumonitis Lungs--InflammationCiter ce document
A. Cobat et al., « Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants. », Serveur académique Lausannois, ID : 10.1146/annurev-biodatasci-020222-021705
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SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection is silent or benign in most infected individuals, but causes hypoxemic COVID-19 pneumonia in about 10% of cases. We review studies of the human genetics of life-threatening COVID-19 pneumonia, focusing on both rare and common variants. Large-scale genome-wide association studies have identified more than 20 common loci robustly associated with COVID-19 pneumonia with modest effect sizes, some implicating genes expressed in the lungs or leukocytes. The most robust association, on chromosome 3, concerns a haplotype inherited from Neanderthals. Sequencing studies focusing on rare variants with a strong effect have been particularly successful, identifying inborn errors of type I interferon (IFN) immunity in 1-5% of unvaccinated patients with critical pneumonia, and their autoimmune phenocopy, autoantibodies against type I IFN, in another 15-20% of cases. Our growing understanding of the impact of human genetic variation on immunity to SARS-CoV-2 is enabling health systems to improve protection for individuals and populations.