Sökning: WFRF:(Carmen Esther) > Novel genes and sex...
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000 | 10890naa a2202377 4500 | |
001 | oai:DiVA.org:uu-514625 | |
003 | SwePub | |
008 | 231019s2022 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:150508651 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5146252 URI |
024 | 7 | a https://doi.org/10.1093/hmg/ddac1322 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1505086512 URI |
040 | a (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Cruz, Raquel4 aut |
245 | 1 0 | a Novel genes and sex differences in COVID-19 severity |
264 | c 2022-06-16 | |
264 | 1 | b Oxford University Press,c 2022 |
338 | a electronic2 rdacarrier | |
520 | a Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided. | |
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 Hälsovetenskapx Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi0 (SwePub)303022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Public Health, Global Health, Social Medicine and Epidemiology0 (SwePub)303022 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 Frithiof, Robertu Uppsala universitet,Anestesiologi och intensivvård4 aut0 (Swepub:uu)robfr118 |
700 | 1 | a Duga, Stefano4 aut |
700 | 1 | a Asselta, Rosanna4 aut |
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700 | 1 | a Valenti, Luca4 aut |
700 | 1 | a Zeberg, Hugou Karolinska Institutet4 aut |
700 | 1 | a Richards, Brent4 aut |
700 | 1 | a Ganna, Andrea4 aut |
700 | 1 | a Boada, Mercè4 aut |
700 | 1 | a de Rojas, Itziar4 aut |
700 | 1 | a Ruiz, Agustín4 aut |
700 | 1 | a Sánchez-Juan, Pascual4 aut |
700 | 1 | a Real, Luis Miguel4 aut |
700 | 1 | a Guillen-Navarro, Encarna4 aut |
700 | 1 | a Ayuso, Carmen4 aut |
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710 | 2 | a Karolinska Institutetb Anestesiologi och intensivvård4 org |
773 | 0 | t Human Molecular Geneticsd : Oxford University Pressg 31:22, s. 3789-3806q 31:22<3789-3806x 0964-6906x 1460-2083 |
856 | 4 | u https://doi.org/10.1093/hmg/ddac132y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1806010/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-514625 |
856 | 4 8 | u https://doi.org/10.1093/hmg/ddac132 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:150508651 |
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