{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T14:20:51Z","timestamp":1792419651481,"version":"4.5.0"},"reference-count":62,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:p>\n                    Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor\n                    <jats:italic>TLR7<\/jats:italic>\n                    (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75\u201310.05, p = 5.41x10\n                    <jats:sup>-7<\/jats:sup>\n                    ). This association was consistent across sexes. These results further support\n                    <jats:italic>TLR7<\/jats:italic>\n                    as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.\n                  <\/jats:p>","DOI":"10.1371\/journal.pgen.1010367","type":"journal-article","created":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T13:24:02Z","timestamp":1667481842000},"page":"e1010367","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":65,"title":["Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics 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