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Comment
. 2023 Sep;621(7977):E7-E26.
doi: 10.1038/s41586-023-06355-3. Epub 2023 Sep 6.

A second update on mapping the human genetic architecture of COVID-19

COVID-19 Host Genetics Initiative
Collaborators
Comment

A second update on mapping the human genetic architecture of COVID-19

COVID-19 Host Genetics Initiative. Nature. 2023 Sep.
No abstract available

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Conflict of interest statement

A full list of competing interests is provided in Supplementary Table 12.

Figures

Fig. 1
Fig. 1. Overview of the contributing studies in the HGI data release 7.
a, Geographical overview of the studies contributing to the COVID-19 HGI and the composition by major ancestry groups. Populations are defined as Middle Eastern (MID), South Asian (SAS), East Asian (EAS), African (AFR), admixed American (AMR), European (EUR) and other (OTH). b, A principal component analysis (PCA) highlights the population structure and the sample ancestry of the individuals participating in the COVID-19 HGI. Per-cohort PCA results are provided in Supplementary Fig. 2. This figure was reproduced from the original publication by the COVID-19 HGI with modifications reflecting the updated analysis from data release 7.
Fig. 2
Fig. 2. GWAS results for COVID-19.
a, The results of a GWAS analysis of hospitalized individuals with COVID-19 (n = 49,033 cases and n = 3,393,109 controls) (top), and the results for individuals with reported SARS-CoV-2 infection (n = 219,692 cases and n = 3,001,905 controls) (bottom). The loci highlighted in yellow (top) represent regions that are associated with severity of COVID-19. The loci highlighted in green (bottom) are regions associated with susceptibility to SARS-CoV-2 infection. Lead variants for the loci that were identified in this data release are annotated with their respective rsID. The y axis is on the −log10 (P) scale up to 10, after which it switches to a 10 × log10[−log10(P)] scale to aid presentation. b, Results of gene prioritization using different evidence measures of gene annotation. For the genes in a linkage-disequilibrium (LD) region, genes with coding variants and eGenes (fine-mapped cis-expression quantitative trait locus (cis-eQTL) variant with posterior inclusion probability (PIP) >0.1 in GTEx Lung) are annotated as such if they are in linkage disequilibrium with a COVID-19 lead variant (r2 > 0.6). V2G, the highest gene prioritized by OpenTargetGenetics V2G score. The pink circle indicates SARS-CoV-2 infection susceptibility, the green triangle indicates COVID-19 severity and the blue cross indicates unclassified. This figure was reproduced from the original publication by the COVID-19 HGI with modifications reflecting the updated analysis from data release 7.
Extended Data Fig. 1
Extended Data Fig. 1. Major COVID-19 biological pathways mapped with susceptibility and severity GWAS loci.
Genome-wide significant variants associated with COVID-19 (white boxes) and the annotated genes (peach boxes) are mapped on to pathways known to be involved in (a) viral entry and innate immunity, (b) entry defence in airway mucus, and (c) type I interferon. The suggested phenotypic impact of the significant variants using the Bayesian approach are denoted with shapes; COVID-19 susceptibility (pink circles), COVID-19 disease severity (green triangles), and unclassified variants (blue cross). Other genes known to be involved in the aforementioned pathways are shown using grey boxes. Detailed list of references to studies used to design this pathway can be found in Supplementary Note.
See this image and copyright information in PMC

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References

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