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"Katsushi", "initials": "K"}, {"family": "Sugiyama", "given": "Masaya", "initials": "M", "orcid": "0000-0002-9084-7197", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7f3632f2fc194b6bae79c19866bba435.json"}}, {"family": "Kawai", "given": "Yosuke", "initials": "Y", "orcid": "0000-0003-0666-1224", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4b10f3bb7ee947888c8f1ae16310b7b6.json"}}, {"family": "Hasegawa", "given": "Takanori", "initials": "T", "orcid": "0000-0001-7251-9950", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/35e832f9646247ae9dce11d891433d24.json"}}, {"family": "Naito", "given": "Tatsuhiko", "initials": "T"}, {"family": "Namkoong", "given": "Ho", "initials": "H", "orcid": "0000-0001-6181-4284", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/96f71bc761ca40d0a40bc7644c519f1c.json"}}, {"family": "Edahiro", "given": "Ryuya", "initials": "R"}, {"family": "Kimura", "given": "Akinori", "initials": "A"}, {"family": "Ogawa", "given": "Seishi", "initials": "S"}, {"family": "Kanai", "given": "Takanori", "initials": "T"}, {"family": "Fukunaga", "given": "Koichi", "initials": "K"}, {"family": "Okada", "given": "Yukinori", "initials": "Y"}, {"family": "Imoto", "given": "Seiya", "initials": "S"}, {"family": "Miyano", "given": "Satoru", "initials": "S", "orcid": "0000-0002-1753-6616", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b26047b7517441ad91bb2934cf66a337.json"}}, {"family": "Mangul", "given": "Serghei", "initials": "S", "orcid": "0000-0003-4770-3443", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8e87a9f05e2d42779ce7a7357b8d6b62.json"}}, {"family": "Abedalthagafi", "given": "Malak S", "initials": "MS"}, {"family": "Zeberg", "given": "Hugo", "initials": "H", "orcid": "0000-0001-7118-1249", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1c306297a4a0490c84a1d748b9f302a2.json"}}, {"family": "Grzymski", "given": "Joseph J", "initials": "JJ", "orcid": "0000-0003-2646-8958", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ff7de90ac4c14fbe899846adec65fb96.json"}}, {"family": "Washington", "given": "Nicole L", "initials": "NL"}, {"family": "Ossowski", "given": "Stephan", "initials": "S", "orcid": "0000-0002-7416-9568", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2d59334f547645f0afc211c8f63b8936.json"}}, {"family": "Ludwig", "given": "Kerstin U", "initials": "KU", "orcid": "0000-0002-8541-2519", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8e34872452274bc583bf0ee7af758e07.json"}}, {"family": "Schulte", "given": "Eva C", "initials": "EC", "orcid": "0000-0003-3105-5672", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/95d6999d62034b6fbc2c46d997962030.json"}}, {"family": "Riess", "given": "Olaf", "initials": "O"}, {"family": "Moniuszko", "given": "Marcin", "initials": "M"}, {"family": "Kwasniewski", "given": "Miroslaw", "initials": "M"}, {"family": "Mbarek", "given": "Hamdi", "initials": "H"}, {"family": "Ismail", "given": "Said I", "initials": "SI"}, {"family": "Verma", "given": "Anurag", "initials": "A", "orcid": "0000-0002-5063-9107", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9988534363024616bc739738f1c9a854.json"}}, {"family": "Goldstein", "given": "David B", "initials": "DB", "orcid": "0000-0001-7627-0259", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f27e71f7fef9461ebf98935546a4cde7.json"}}, {"family": "Kiryluk", "given": "Krzysztof", "initials": "K", "orcid": "0000-0002-5047-6715", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2f5e2ff65a7a425a91eb7b03ce370d9a.json"}}, {"family": "Renieri", "given": "Alessandra", "initials": "A", "orcid": "0000-0002-0846-9220", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2113adef51ff4b7b9cbbc56f8d78e95f.json"}}, {"family": "Ferreira", "given": "Manuel A R", "initials": "MAR"}, {"family": "Richards", "given": "J Brent", "initials": "JB", "orcid": "0000-0002-3746-9086", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed87dd6607bd4dcdbc150d5432ebfb05.json"}}], "type": "journal article", "published": "2022-11-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "18", "issue": "11", "pages": "e1010367", "issn-l": "1553-7390"}, "abstract": "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 TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.", "doi": "10.1371/journal.pgen.1010367", "pmid": "36327219", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9632827"}, {"db": "pii", "key": "PGENETICS-D-22-00434"}], "notes": [], "created": "2026-09-23T08:37:18.986Z", "modified": "2026-09-23T08:37:22.559Z"}]}