2026-08-29T16:26:22Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/150732025-05-08T14:58:30Zcom_20.500.12105_2052com_20.500.12105_2051com_20.500.12105_15322col_20.500.12105_19609col_20.500.12105_16938col_20.500.12105_16958col_20.500.12105_16959col_20.500.12105_16960col_20.500.12105_16961col_20.500.12105_16962col_20.500.12105_16963col_20.500.12105_16966col_20.500.12105_16970col_20.500.12105_16973col_20.500.12105_16976col_20.500.12105_16974col_20.500.12105_16975col_20.500.12105_16977col_20.500.12105_16978col_20.500.12105_16979col_20.500.12105_16981col_20.500.12105_16972col_20.500.12105_16987
Repisalud author Cruz, Raquel author Diz-de Almeida, Silvia author López Heredia, Miguel author Quintela, Inés author Ceballos, Francisco C author Pita, Guillermo author Lorenzo-Salazar, José M author González-Montelongo, Rafaela author Gago-Dominguez, Manuela author Sevilla Porras, Marta author Tenorio Castaño, Jair Antonio author Nevado, Julian author Aguado, José María author Aguilar, Carlos author Aguilera-Albesa, Sergio author Almadana, Virginia author Almoguera, Berta author Alvarez, Nuria author Andreu-Bernabeu, Álvaro author Arana-Arri, Eunate author Arango, Celso author Arranz, María J author Artiga, Maria-Jesus author Baptista-Rosas, Raúl C author Barreda-Sánchez, María author Belhassen-García, Moncef author Bezerra, Joao F author Bezerra, Marcos A C author Boix-Palop, Lucía author Brion, María author Brugada, Ramón author Bustos, Matilde author Calderón, Enrique J author Carbonell, Cristina author Castano, Luis author Castelao, Jose E author Conde-Vicente, Rosa author Cordero-Lorenzana, M Lourdes author Cortes-Sanchez, Jose L author Corton, Marta author Darnaude, M Teresa author De Martino-Rodríguez, Alba author Campo-Pérez, Victor author Diaz Bustamante, Aranzazu author Domínguez-Garrido, Elena author Luchessi, Andre D author Eirós, Rocío author Estigarribia Sanabria, Gladys Mercedes author Fariñas, María Carmen author Fernández-Robelo, Uxía author Fernandez-Rodriguez, Amanda author Fernández-Villa, Tania author Gil-Fournier, Belén author Gómez-Arrue, Javier author González Álvarez, Beatriz author Gonzalez Bernaldo Quirós, Fernan author González-Peñas, Javier author Gutiérrez-Bautista, Juan F author Herrero, María José author Herrero-Gonzalez, Antonio author Jimenez-Sousa, Maria Angeles author Lattig, María Claudia author Borja, Anabel Liger author Lopez-Rodriguez, Rosario author Mancebo, Esther author Martín-López, Caridad author Martín, Vicente author Martinez-Nieto, Oscar author Martinez-Lopez, Iciar author Martinez-Resendez, Michel F author Martinez-Perez, Angel author Mazzeu, Juliana A author Merayo Macías, Eleuterio author Minguez, Pablo author Moreno Cuerda, Victor author Silbiger, Vivian N author Oliveira, Silviene F author Ortega-Paino, Eva author Parellada, Mara author Paz-Artal, Estela author Santos, Ney PC author Pérez-Matute, Patricia author Perez, Patricia author Pérez-Tomás, M Elena author Perucho, Teresa author Pinsach-Abuin, Mel·lina author Pompa-Mera, Ericka N author Porras-Hurtado, Gloria L author Pujol, Aurora author Ramiro León, Soraya author Resino, Salvador author Fernandes, Marianne R author Rodríguez-Ruiz, Emilio author Rodríguez-Artalejo, Fernando author Rodriguez-Garcia, José A author Ruiz-Cabello, Francisco author Ruiz-Hornillos, Javier author Ryan, Pablo author Soria, José Manuel author Souto, Juan Carlos author Tamayo, Eduardo author Tamayo-Velasco, Álvaro author Taracido-Fernandez, Juan Carlos author Teper, Alejandro author Torres-Tobar, Lilian author Urioste, Miguel author Valencia-Ramos, Juan author Yáñez, Zuleima author Zarate, Ruth author Nakanishi, Tomoko author Pigazzini, Sara author Degenhardt, Frauke author Butler-Laporte, Guillaume author Maya-Miles, Douglas author Bujanda, Luis author Bouysran, Youssef author Palom, Adriana author Ellinghaus, David author Martínez-Bueno, Manuel author Rolker, Selina author Amitrano, Sara author Roade, Luisa author Fava, Francesca author Spinner, Christoph D author Prati, Daniele author Bernardo, David author García, Federico author Darcis, Gilles author Fernández-Cadenas, Israel author Holter, Jan Cato author Banales, Jesus M author Frithiof, Robert author Duga, Stefano author Asselta, Rosanna author Pereira, Alexandre C author Romero-Gómez, Manuel author Nafría-Jiménez, Beatriz author Hov, Johannes R author Migeotte, Isabelle author Renieri, Alessandra author Planas, Anna M author Ludwig, Kerstin U author Buti, Maria author Rahmouni, Souad author Alarcón-Riquelme, Marta E author Schulte, Eva C author Franke, Andre author Karlsen, Tom H author Valenti, Luca author Zeberg, Hugo author Richards, Brent author Ganna, Andrea author Boada, Mercè author Rojas, Itziar author Ruiz, Agustín author Sánchez, Pascual author Real, Luis Miguel author Guillén-Navarro, Encarna author Ayuso, Carmen author González-Neira, Anna author Riancho, José A author Rojas-Martinez, Augusto author Flores, Carlos author Lapunzina, Pablo author Carracedo, Ángel author SCOURGE Cohort Group author HOSTAGE Cohort Group author GRA@CE Cohort Group funder Instituto de Salud Carlos III funder Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) funder Banco Santander funder Fundación La Caixa funder Agencia Estatal de Investigación (España) funder Fundación Canaria de Investigación Sanitaria funder Fundación Amancio Ortega funder Estrella de Levante funder Cabildo Insular de Tenerife (España) 2022-10-19T08:31:52Z 2022-10-19T08:31:52Z 2022-06-16 Hum Mol Genet. 2022 Jun 16;ddac132. 10.1093/hmg/ddac132 1460-2083 Human molecular genetics 35708486 http://hdl.handle.net/20.500.12105/15073 Here we describe the results of a genome-wide study conducted in 11 939 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 < 5x10-8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (p = 1.3x10-22 and p = 8.1x10-12, respectively), and for variants in 9q21.32 near TLE1 only among females (p = 4.4x10-8). 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 = 2.7x10-8) and ARHGAP33 (p = 1.3x10-8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, p = 4.1x10-8). 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. eng Novel genes and sex differences in COVID-19 severity research article 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 URL https://repisalud.isciii.es/bitstreams/f4b3ec22-7c19-45d4-8c38-87f846f300d3/download File MD5 8a725cde41f2c799f95227554604ac61 1599884 application/pdf NovelGenesSexDifferencesCOVID-19_2022.pdf URL https://repisalud.isciii.es/bitstreams/c615ac3a-dfb0-4d9f-8a77-289a0020fb3e/download File MD5 930f7db50cbb6aa8a810adcbcea635fa 100416 text/plain NovelGenesSexDifferencesCOVID-19_2022.pdf.txt