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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 08976naa a2202245 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:151972618 | |
| 003 | SwePub | |
| 008 | 240701s2022 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:uu-488649 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1519726182 URI |
| 024 | 7 | a https://doi.org/10.1371/journal.pgen.10103672 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4886492 URI |
| 040 | a (SwePub)kid (SwePub)uu | |
| 041 | a engb eng | |
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| 100 | 1 | a Butler-Laporte, G4 aut |
| 245 | 1 0 | a Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative |
| 264 | c 2022-11-03 | |
| 264 | 1 | b Public Library of Science (PLoS),c 2022 |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Infektionsmedicin0 (SwePub)302092 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Infectious Medicine0 (SwePub)302092 hsv//eng |
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| 700 | 1 | a Simons, N4 aut |
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| 700 | 1 | a Kim-Schulze, S4 aut |
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| 700 | 1 | a Beckmann, ND4 aut |
| 700 | 1 | a Charney, AW4 aut |
| 700 | 1 | a Przychodzen, B4 aut |
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| 700 | 1 | a Pottinger, TD4 aut |
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| 700 | 1 | a Hultström, Michael,d 1978-u Uppsala universitet,Anestesiologi och intensivvård,Integrativ Fysiologi,Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, Québec, Canada;Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.4 aut0 (Swepub:uu)mihul498 |
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| 700 | 1 | a Kimura, A4 aut |
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| 700 | 1 | a Okada, Y4 aut |
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| 700 | 1 | a Miyano, S4 aut |
| 700 | 1 | a Mangul, S4 aut |
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| 700 | 1 | a Zeberg, Hu Karolinska Institutet4 aut |
| 700 | 1 | a Grzymski, JJ4 aut |
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| 710 | 2 | a Uppsala universitetb Anestesiologi och intensivvård4 org |
| 773 | 0 | t PLoS geneticsd : Public Library of Science (PLoS)g 18:11, s. e1010367-q 18:11<e1010367-x 1553-7404x 1553-7390 |
| 856 | 4 | u https://doi.org/10.1371/journal.pgen.1010367y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1712145/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:151972618 |
| 856 | 4 8 | u https://doi.org/10.1371/journal.pgen.1010367 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-488649 |
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