Novel genes and sex differences in COVID-19 severity.


Journal

Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958

Informations de publication

Date de publication:
10 11 2022
Historique:
received: 15 02 2022
revised: 16 05 2022
accepted: 01 06 2022
pubmed: 17 6 2022
medline: 16 11 2022
entrez: 16 6 2022
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 35708486
pii: 6607933
doi: 10.1093/hmg/ddac132
pmc: PMC9652109
doi:

Types de publication

Meta-Analysis Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3789-3806

Informations de copyright

© The Author(s) 2022. Published by Oxford University Press.

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Auteurs

Raquel Cruz (R)

Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain.
Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Silvia Diz-de Almeida (S)

Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Miguel López de Heredia (M)

Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Inés Quintela (I)

Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, 15706 Santiago de Compostela, Spain.

Francisco C Ceballos (FC)

Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.

Guillermo Pita (G)

Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, 28029 Madrid, Spain.

José M Lorenzo-Salazar (JM)

Genomics Division, Instituto Tecnológico y de Energías Renovables, 38600 Santa Cruz de Tenerife, Spain.

Rafaela González-Montelongo (R)

Genomics Division, Instituto Tecnológico y de Energías Renovables, 38600 Santa Cruz de Tenerife, Spain.

Manuela Gago-Domínguez (M)

Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), 15706 Santiago de Compostela, Spain.
Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain.

Marta Sevilla Porras (M)

Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.

Jair Antonio Tenorio Castaño (JA)

Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.
ERN-ITHACA-European Reference Network.

Julian Nevado (J)

Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.
ERN-ITHACA-European Reference Network.

Jose María Aguado (JM)

Unit of Infectious Diseases, Hospital Universitario 12 de Octubre, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.
Spanish Network for Research in Infectious Diseases (REIPI RD16/0016/0002), Instituto de Salud Carlos III, 28029 Madrid, Spain.
School of Medicine, Universidad Complutense, 28040 Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Carlos Aguilar (C)

Hospital General Santa Bárbara de Soria, 42005 Soria, Spain.

Sergio Aguilera-Albesa (S)

Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service Hospital, 31008 Pamplona, Spain.
Navarra Health Service, NavarraBioMed Research Group, 31008 Pamplona, Spain.

Virginia Almadana (V)

Hospital Universitario Virgen Macarena, Neumología, 41009 Seville, Spain.

Berta Almoguera (B)

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Nuria Alvarez (N)

Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, 28029 Madrid, Spain.

Álvaro Andreu-Bernabeu (Á)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.
School of Medicine, Universidad Complutense, 28040 Madrid, Spain.

Eunate Arana-Arri (E)

Biocruces Bizkai HRI, 48903 Barakaldo, Bizkaia, Spain.
Cruces University Hospital, Osakidetza, 48903 Barakaldo, Bizkaia, Spain.

Celso Arango (C)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.
Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, 28029 Madrid, Spain.
School of Medicine, Universidad Complutense, 28040 Madrid, Spain.

María J Arranz (MJ)

Fundació Docència I Recerca Mutua Terrassa, 08221 Terrassa, Spain.

Maria-Jesus Artiga (MJ)

Spanish National Cancer Research Center, CNIO Biobank, 28029 Madrid, Spain.

Raúl C Baptista-Rosas (RC)

Hospital General de Occidente, 45170 Zapopan, Jalisco, Mexico.
Centro Universitario de Tonalá, Universidad de Guadalajara, 45425 Tonalá, Jalisco, Mexico.
Centro de Investigación Multidisciplinario en Salud, Universidad de Guadalajara, 45425 Tonalá, Jalisco, Mexico.

María Barreda-Sánchez (M)

Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), 30120 Murcia, Spain.
Universidad Católica San Antonio de Murcia (UCAM), 30120 Murcia, Spain.

Moncef Belhassen-Garcia (M)

Hospital Universitario de Salamanca-IBSAL, Servicio de Medicina Interna-Unidad de Enfermedades Infecciosas, 37007 Salamanca, Spain.
Universidad de Salamanca, 37007 Salamanca, Spain.

Joao F Bezerra (JF)

Escola Tecnica de Saúde, Laboratorio de Vigilancia Molecular Aplicada, 68515-000 Pará, Brazil.

Marcos A C Bezerra (MAC)

Federal University of Pernambuco, Genetics Postgraduate Program, Recife 50670-907, PE, Brazil.

Lucía Boix-Palop (L)

Hospital Universitario Mutua Terrassa, 08221 Terrassa, Spain.

María Brion (M)

Instituto de Investigación Sanitaria de Santiago (IDIS), Xenética Cardiovascular, 15706 Santiago de Compostela, Spain.
Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Ramón Brugada (R)

Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), 17190 Girona, Spain.
Medical Science Department, School of Medicine, University of Girona, 17190 Girona, Spain.
Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Hospital Josep Trueta, Cardiology Service, 17190 Girona, Spain.

Matilde Bustos (M)

Institute of Biomedicine of Seville (IBiS), Consejo Superior de Investigaciones Científicas (CSIC)- University of Seville- Virgen del Rocio University Hospital, 41013 Seville, Spain.

Enrique J Calderón (EJ)

Departemento de Medicina, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, 41013 Seville, Spain.
Centre for Biomedical Network Research on Epidemiology and Public Health (CIBERESP), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Instituto de Biomedicina de Sevilla, 41013 Seville, Spain.

Cristina Carbonell (C)

Hospital Universitario de Salamanca-IBSAL, Servicio de Medicina Interna, 37007 Salamanca, Spain.
Universidad de Salamanca, 37007 Salamanca, Spain.

Luis Castano (L)

Biocruces Bizkai HRI, 48903 Barakaldo, Bizkaia, Spain.
Osakidetza, Cruces University Hospital, 48903 Barakaldo, Bizkaia, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Centre for Biomedical Network Research on Diabetes and Metabolic Associated Diseases (CIBERDEM), Instituto de Salud Carlos III, 28029 Madrid, Spain.
University of Pais Vasco, UPV/EHU, 48903 Bizkaia, Spain.

Jose E Castelao (JE)

Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur, Xerencia de Xestion Integrada de Vigo-Servizo Galego de Saúde, 36312 Vigo, Spain.

Rosa Conde-Vicente (R)

Hospital Universitario Río Hortega, 47012 Valladolid, Spain.

M Lourdes Cordero-Lorenzana (ML)

Servicio de Medicina intensiva, Complejo Hospitalario Universitario de A Coruña (CHUAC), Sistema Galego de Saúde (SERGAS), 15009 A Coruña, Spain.

Jose L Cortes-Sanchez (JL)

Tecnológico de Monterrey, 64718 Monterrey, Mexico.
Otto von Guericke University, Departament of Microgravity and Translational Regenerative Medicine, 39106 Magdeburg, Germany.

Marta Corton (M)

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

M Teresa Darnaude (MT)

Hospital Universitario Mostoles, Unidad de Genética, 28935 Madrid, Spain.

Alba De Martino-Rodríguez (A)

Instituto Aragonés de Ciencias de la Salud (IACS), 50009 Zaragoza, Spain.
Instituto Investigación Sanitaria Aragón (IIS-Aragon), 50009 Zaragoza, Spain.

Victor Del Campo-Pérez (V)

Preventive Medicine Department, Instituto de Investigacion Sanitaria Galicia Sur, Xerencia de Xestion Integrada de Vigo-Servizo Galego de Saúde, 36312 Vigo, Spain.

Aranzazu Diaz de Bustamante (A)

Hospital Universitario Mostoles, Unidad de Genética, 28935 Madrid, Spain.

Elena Domínguez-Garrido (E)

Unidad Diagnóstico Molecular. Fundación Rioja Salud, 26006 La Rioja, Spain.

Andre D Luchessi (AD)

Universidade Federal do Rio Grande do Norte, Departamento de Analises Clinicas e Toxicologicas, 59012-570 Natal, Brazil.

Rocío Eiros (R)

Hospital Universitario de Salamanca-IBSAL, Servicio de Cardiología, 37007 Salamanca, Spain.

Gladys Mercedes Estigarribia Sanabria (GM)

Instituto Regional de Investigación en Salud-Universidad Nacional de Caaguazú, HH36+J3Q Caaguazú, Paraguay.

María Carmen Fariñas (M)

IDIVAL, 39008 Cantabria, Spain.
Universidad de Cantabria, 39008 Cantabria, Spain.
Hospital U M Valdecilla, 39008 Cantabria, Spain.

Uxía Fernández-Robelo (U)

Urgencias Hospitalarias, Complejo Hospitalario Universitario de A Coruña (CHUAC), Sistema Galego de Saúde (SERGAS), 15009 A Coruña, Spain.

Amanda Fernández-Rodríguez (A)

Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Tania Fernández-Villa (T)

Grupo de Investigación en Interacciones Gen-Ambiente y Salud (GIIGAS) - Instituto de Biomedicina (IBIOMED), Universidad de León, 24071 León, Spain.

Belén Gil-Fournier (B)

Hospital Universitario de Getafe, Servicio de Genética, 28905 Madrid, Spain.

Javier Gómez-Arrue (J)

Instituto Aragonés de Ciencias de la Salud (IACS), 50009 Zaragoza, Spain.
Instituto Investigación Sanitaria Aragón (IIS-Aragon), 50009 Zaragoza, Spain.

Beatriz González Álvarez (B)

Instituto Aragonés de Ciencias de la Salud (IACS), 50009 Zaragoza, Spain.
Instituto Investigación Sanitaria Aragón (IIS-Aragon), 50009 Zaragoza, Spain.

Fernan Gonzalez Bernaldo de Quirós (F)

Ministerio de Salud Ciudad de Buenos Aires, Buenos Aires C1425EFD CABA, Argentina.

Javier González-Peñas (J)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.
School of Medicine, Universidad Complutense, 28040 Madrid, Spain.
Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Juan F Gutiérrez-Bautista (JF)

Hospital Universitario Virgen de las Nieves, Servicio de Análisis Clínicos e Inmunología, 18014 Granada, Spain.

María José Herrero (MJ)

IIS La Fe, Plataforma de Farmacogenética, 46026 Valencia, Spain.
Universidad de Valencia, Departamento de Farmacología, 46010 Valencia, Spain.

Antonio Herrero-Gonzalez (A)

Data Analysis Department, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.

María A Jimenez-Sousa (MA)

Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain.

María Claudia Lattig (MC)

Universidad de los Andes, Facultad de Ciencias, Bogotá 111711, Colombia.
SIGEN Alianza Universidad de los Andes - Fundación Santa Fe de Bogotá, Bogotá 111711, Clombia.

Anabel Liger Borja (A)

Hospital General de Segovia, Medicina Intensiva, 40002 Segovia, Spain.

Rosario Lopez-Rodriguez (R)

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Esther Mancebo (E)

Hospital Universitario 12 de Octubre, Department of Immunology, 28041 Madrid, Spain.
Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Transplant Immunology and Immunodeficiencies Group, 28041 Madrid, Spain.

Caridad Martín-López (C)

Hospital General de Segovia, Medicina Intensiva, 40002 Segovia, Spain.

Vicente Martín (V)

Instituto de Biomedicina (IBIOMED), Universidad de León, 24071 León, Spain.
Centre for Biomedical Network Research on Epidemiology and Public Health (CIBERESP), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Oscar Martinez-Nieto (O)

Fundación Santa Fe de Bogota, Departamento Patologia y Laboratorios, Bogotá 111711, Colombia.
SIGEN Alianza Universidad de los Andes - Fundación Santa Fe de Bogotá, Bogotá 111711, Clombia.

Iciar Martinez-Lopez (I)

Unidad de Genética y Genómica Islas Baleares, 07120 Islas Baleares, Spain.
Hospital Universitario Son Espases, Unidad de Diagnóstico Molecular y Genética Clínica, 07120 Islas Baleares, Spain.

Michel F Martinez-Resendez (MF)

Tecnológico de Monterrey, 64718 Monterrey, Mexico.

Angel Martinez-Perez (A)

Genomics of Complex Diseases Unit, Research Institute of Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain.

Juliana F Mazzeu (JF)

Faculdade de Medicina, Universidade de Brasília, Brasilia 70910-900, Brazil.
Programa de Pós-Graduação em Ciências Médicas, Universidade de Brasília, Brasilia 70910-900, Brazil.
Programa de Pós-Graduação em Ciências da Saúde, Universidade de Brasília, Brasilia 70910-900, Brazil.

Eleuterio Merayo Macías (E)

Hospital El Bierzo, Unidad Cuidados Intensivos, 24404 León, Spain.

Pablo Minguez (P)

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Victor Moreno Cuerda (V)

Hospital Universitario Mostoles, Medicina Interna, 28935 Madrid, Spain.
Universidad Francisco de Vitoria, 28223 Madrid, Spain.

Vivian N Silbiger (VN)

Universidade Federal do Rio Grande do Norte, Departamento de Analises Clinicas e Toxicologicas, 59012-570 Natal, Brazil.

Silviene F Oliveira (SF)

Faculdade de Medicina, Universidade de Brasília, Brasilia 70910-900, Brazil.
Programa de Pós-Graduação em Biologia Animal, Universidade de Brasília, Brasília 70910-900, Brazil.
Programa de Pós-Graduação Profissional em Ensino de Biologia, Universidade de Brasília, Brasília 70910-900, Brazil.
Programa de Pós-Graduação Profissional em Ensino de Biologia (UnB), Universidade de Brasília, Brasília 70910-900, Brazil.
Programa de Pós-Graduação em Ciências Médicas, Universidade de Brasília, Brasília 70910-900, Brazil.

Eva Ortega-Paino (E)

Spanish National Cancer Research Center, CNIO Biobank, 28029 Madrid, Spain.

Mara Parellada (M)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.
Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, 28029 Madrid, Spain.
School of Medicine, Universidad Complutense, 28040 Madrid, Spain.

Estela Paz-Artal (E)

Hospital Universitario 12 de Octubre, Department of Immunology, 28041 Madrid, Spain.
Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Transplant Immunology and Immunodeficiencies Group, 28041 Madrid, Spain.
Universidad Complutense de Madrid, Department of Immunology, Ophthalmology and ENT, 28040 Madrid, Spain.

Ney P C Santos (NPC)

Universidade Federal do Pará, Núcleo de Pesquisas em Oncologia, Belém, Pará 66075-110, Brazil.

Patricia Pérez-Matute (P)

Infectious Diseases, Microbiota and Metabolism Unit, Center for Biomedical Research of La Rioja (CIBIR), 26006 Logroño, Spain.

Patricia Perez (P)

Inditex, 15141 A Coruña, Spain.

M Elena Pérez-Tomás (ME)

Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), 30120 Murcia, Spain.

Teresa Perucho (T)

GENYCA, 28220 Madrid, Spain.

Mel Lina Pinsach-Abuin (ML)

Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), 17190 Girona, Spain.
Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Ericka N Pompa-Mera (EN)

Instituto Mexicano del Seguro Social (IMSS), Centro Médico Nacional Siglo XXI, Unidad de Investigación Médica en Enfermedades Infecciosas y Parasitarias, Mexico City 02990, Mexico.

Gloria L Porras-Hurtado (GL)

Clinica Comfamiliar Risaralda, 660003 Pereira, Colombia.

Aurora Pujol (A)

Bellvitge Biomedical Research Institute (IDIBELL), Neurometabolic Diseases Laboratory, 08908 L'Hospitalet de Llobregat, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.

Soraya Ramiro León (S)

Hospital Universitario de Getafe, Servicio de Genética, 28905 Madrid, Spain.

Salvador Resino (S)

Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Marianne R Fernandes (MR)

Universidade Federal do Pará, Núcleo de Pesquisas em Oncologia, Belém, Pará 66075-110, Brazil.
Hospital Ophir Loyola, Departamento de Ensino e Pesquisa, Belém, Pará 66063-240, Brazil.

Emilio Rodríguez-Ruiz (E)

Unidad de Cuidados Intensivos, Hospital Clínico Universitario de Santiago (CHUS), Sistema Galego de Saúde (SERGAS), 15706 Santiago de Compostela, Spain.
Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain.

Fernando Rodriguez-Artalejo (F)

Department of Preventive Medicine and Public Health, School of Medicine, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
IdiPaz (Instituto de Investigación Sanitaria Hospital Universitario La Paz), 28046 Madrid, Spain.
Centre for Biomedical Network Research on Epidemiology and Public Health (CIBERESP), Instituto de Salud Carlos III, 28029 Madrid, Spain.
IMDEA-Food Institute, CEI UAM+CSIC, 28049 Madrid, Spain.

José A Rodriguez-Garcia (JA)

Complejo Asistencial Universitario de León, 24071 León, Spain.

Francisco Ruiz Cabello (F)

Hospital Universitario Virgen de las Nieves, Servicio de Análisis Clínicos e Inmunología, 18014 Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs GRANADA), 18012 Granada, Spain.
Universidad de Granada, Departamento Bioquímica, Biología Molecular e Inmunología III, 18071 Granada, Spain.

Javier Ruiz-Hornillos (J)

Hospital Infanta Elena, Allergy Unit, Valdemoro, 28342 Madrid, Spain.
Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Faculty of Medicine, Universidad Francisco de Vitoria, 28223 Madrid, Spain.

Pablo Ryan (P)

Hospital Universitario Infanta Leonor, 28031 Madrid, Spain.
Complutense University of Madrid, 28040 Madrid, Spain.
Gregorio Marañón Health Research Institute (IiSGM), 28007 Madrid, Spain.

José Manuel Soria (JM)

Genomics of Complex Diseases Unit, Research Institute of Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain.

Juan Carlos Souto (JC)

Haemostasis and Thrombosis Unit, Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain.

Eduardo Tamayo (E)

Hospital Clinico Universitario de Valladolid, Servicio de Anestesiologia y Reanimación, 47003 Valladolid, Spain.
Universidad de Valladolid, Departamento de Cirugía, 47005 Valladolid, Spain.

Alvaro Tamayo-Velasco (A)

Hospital Clinico Universitario de Valladolid, Servicio de Hematologia y Hemoterapia, 47003 Valladolid, Spain.

Juan Carlos Taracido-Fernandez (JC)

Data Analysis Department, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.

Alejandro Teper (A)

Hospital de Niños Ricardo Gutierrez, Buenos Aires C1425EFD CABA, Argentina.

Lilian Torres-Tobar (L)

Fundación Universitaria de Ciencias de la Salud, 113827 Bogotá, Colombia.

Miguel Urioste (M)

Spanish National Cancer Research Centre, Familial Cancer Clinical Unit, 28029 Madrid, Spain.

Juan Valencia-Ramos (J)

University Hospital of Burgos, 09006 Burgos, Spain.

Zuleima Yáñez (Z)

Universidad Simón Bolívar, Facultad de Ciencias de la Salud, 080002 Barranquilla, Colombia.

Ruth Zarate (R)

Centro para el Desarrollo de la Investigación Científica, 1255 Asunción, Paraguay.

Tomoko Nakanishi (T)

Institute for Molecular Medicine Finland (FIMM), 00014 Univerisity of Helsinki, Finland.
McGill University, Department of Human Genetics, H3A 0G4 Montréal, Québec, Canada.
Lady Davis Institute, Jewish General Hospital, McGill University, H3T 1E2 Montréal, Québec, Canada.
Kyoto-McGill International Collaborative School in Genomic Medicine, Graduate School of Medicine, Kyoto University, 606-8501 Kyoto, Japan.
Research Fellow, Japan Society for the Promotion of Science, 102-0083 Tokyo, Japan.

Sara Pigazzini (S)

University of Milano-Bicocca, 20126 Milano, Italy.
Institute for Molecular Medicine Finland, Univerisity of Helsinki, 00014 Helsinki, Finland.

Frauke Degenhardt (F)

Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24118 Kiel, Germany.
University Hospital Schleswig-Holstein, Campus Kiel, 24118 Kiel, Germany.

Guillaume Butler-Laporte (G)

Department of Epidemiology, Biostatistics and Occupational Health, McGill University, H3A 0G4 Montréal, Québec, Canada.
Lady Davis Institute, Jewish General Hospital, McGill University, H3T 1E2 Montréal, Québec, Canada.

Douglas Maya-Miles (D)

Digestive Diseases Unit, Virgen del Rocio University Hospital, Institute of Biomedicine of Seville, University of Seville, 41103 Seville, Spain.
Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Luis Bujanda (L)

Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital, University of the Basque Country (UPV/EHU), 20014 San Sebastian, Spain.
Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Youssef Bouysran (Y)

Centre de Génétique Humaine, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium.

Adriana Palom (A)

Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.
Universitat Autònoma de Barcelona, Departament de Medicina, Bellatera, 08193 Barcelona, Spain.
Vall d'Hebron Institut de Recerca (VHIR), Liver Diseases, 08035 Barcelona, Spain.

David Ellinghaus (D)

Novo Nordisk Foundation Center for Protein Research, Disease Systems Biology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2200 Copenhagen, Denmark.
Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24118 Kiel, Germany.

Manuel Martínez-Bueno (M)

GENYO, Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, 18016 Granada, Spain.

Selina Rolker (S)

Institute of Human Genetics, University Hospital Bonn, Medical Faculty University of Bonn, 53127 Bonn, Germany.

Sara Amitrano (S)

Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.

Luisa Roade (L)

Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.
Universitat Autònoma de Barcelona, Departament de Medicina, Bellatera, 08193 Barcelona, Spain.

Francesca Fava (F)

University of Siena, Medical Genetics, 53100 Siena, Italy.
Azienda Ospedaliero-Universitaria Senese, Genetica Medica, 53100 Siena, Italy.
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.

Christoph D Spinner (CD)

Technical University of Munich, School of Medicine, University Hospital rechts der Isar, Department of Internal Medicine II, 80333 Munich, Germany.

Daniele Prati (D)

Department of Transfusion Medicine and Hematology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, 20126 Milano, Italy.

David Bernardo (D)

Mucosal Immunology Lab, Unidad de Excelencia del Instituto de Biomedicina y Genética Molecular (IBGM, Universidad de Valladolid-CSIC), 47005 Valladolid, Spain.
Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Federico Garcia (F)

Hospital Universitario Clinico San Cecilio, 18016 Granada, Spain.
Instituto de Investigación Ibs, Granada, 18012 Granada, Spain.

Gilles Darcis (G)

University of Liege. GIGA-Insitute, B- 4000 Liege, Belgium.
Liege University Hospital (CHU of Liege), B- 4000 Liege, Belgium.

Israel Fernández-Cadenas (I)

Biomedical Research Institute Sant Pau (IIB Sant Pau), Stroke Pharmacogenomics and Genetics Group, 08041 Barcelona, Spain.

Jan Cato Holter (JC)

Oslo University Hospital, Department of Microbiology, 0424 Oslo, Norway.
Institute of Clinical Medicine, University of Oslo, 0424 Oslo, Norway.

Jesus M Banales (JM)

Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital, University of the Basque Country (UPV/EHU), Ikerbasque, 20014 San Sebastian, Spain.
Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Robert Frithiof (R)

Department of Surgical Sciences, Anaesthesiology and Intensive Care Medicine, Uppsala University, 751 05 Uppsala, Sweden.

Stefano Duga (S)

Humanitas University, Department of Biomedical Sciences, 20089 Milan, Italy.
IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.

Rosanna Asselta (R)

Humanitas University, Department of Biomedical Sciences, 20089 Milan, Italy.
IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.

Alexandre C Pereira (AC)

Heart Institute (InCor)/University of Sao Paulo Medical School, 05508-070 Sao Paulo, Brazil.

Manuel Romero-Gómez (M)

Digestive Diseases Unit, Virgen del Rocio University Hospital, Institute of Biomedicine of Seville, University of Seville, 41103 Seville, Spain.
Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Beatriz Nafría-Jiménez (B)

Osakidetza Basque Health Service, Donostialdea Integrated Health Organisation, Clinical Biochemistry Department, 20006 San Sebastian, Spain.

Johannes R Hov (JR)

Norwegian PSC Research Center and Section of Gastroenterology, Dept Transplantation Medicine, Oslo University Hospital, 0424 Oslo, Norway.
Institute of Clinical Medicine, University of Oslo, 0424 Oslo, Norway.
Research Institute of Internal Medicine, Oslo University Hospital, 0424 Oslo, Norway.

Isabelle Migeotte (I)

Fonds de la Recherche Scientifique (FNRS), B - 1000 Brussels.
Centre de Génétique Humaine, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium.

Alessandra Renieri (A)

University of Siena, Medical Genetics, 53100 Siena, Italy.
Azienda Ospedaliero-Universitaria Senese, Genetica Medica, 53100 Siena, Italy.
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.

Anna M Planas (AM)

Institute for Biomedical Research of Barcelona (IIBB), National Spanish Research Council (CSIC), 08028 Barcelona, Spain.
Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.

Kerstin U Ludwig (KU)

Institute of Human Genetics, University Hospital Bonn, Medical Faculty University of Bonn, 53127 Bonn, Germany.

Maria Buti (M)

Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.
Universitat Autònoma de Barcelona, Departament de Medicina, Bellatera, 08193 Barcelona, Spain.

Souad Rahmouni (S)

University of Liege. GIGA-Insitute, B- 4000 Liege, Belgium.

Marta E Alarcón-Riquelme (ME)

GENYO, Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, 18016 Granada, Spain.
Institute for Environmental Medicine, Karolinska Institutet, 171 65 Solna, Sweden.

Eva C Schulte (EC)

Institute of Virology, Technical University Munich/Helmholtz Zentrum München, D-85764 Munich, Germany.
Institute of Psychiatric Phenomics and Genomics, University Hospital, LMU Munich University, 80539 Munich, Germany.
Department of Psychiatry, University Hospital, LMU Munich University, 80539 Munich, Germany.

Andre Franke (A)

Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24118 Kiel, Germany.
University Hospital Schleswig-Holstein, Campus Kiel, 24118 Kiel, Germany.

Tom H Karlsen (TH)

Norwegian PSC Research Center and Section of Gastroenterology, Dept Transplantation Medicine, Oslo University Hospital, 0424 Oslo, Norway.
Institute of Clinical Medicine, University of Oslo, 0424 Oslo, Norway.
Research Institute of Internal Medicine, Oslo University Hospital, 0318 Oslo, Norway.

Luca Valenti (L)

Università degli Studi di Milano, Department of Pathopgysiology and Transplantation, 20126 Milano, Italy.
Department of Transfusion Medicine and Hematology, Precision Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.

Hugo Zeberg (H)

Karolinska Institutet, Department of Neuroscience, 171 77 Stockholm, Sweden.
Max-Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.

Brent Richards (B)

Department of Human Genetics, Epidemiology, Biostatistics and Occupational Health, McGill University, H3A 0G4 Montréal, Québec, Canada.
Lady Davis Institute, Jewish General Hospital, McGill University, H3T 1E2 Montréal, Québec, Canada.
King's College London, Department of Twin Research, London, WC2R 2LS, United Kingdom.

Andrea Ganna (A)

Institute for Molecular Medicine Finland, Univerisity of Helsinki, 00014 Helsinki, Finland.
Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

Mercè Boada (M)

Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08028 Barcelona, Spain.
Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Itziar de Rojas (I)

Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08028 Barcelona, Spain.
Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Agustín Ruiz (A)

Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08028 Barcelona, Spain.
Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Pascual Sánchez-Juan (P)

CIEN Foundation/Queen Sofia Foundation Alzheimer Center, 28031 Madrid, Spain.

Luis Miguel Real (LM)

Hospital Universitario de Valme, Unidad Clínica de Enfermedades Infecciosas y Microbiología, 41014 Sevilla, Spain.

Encarna Guillen-Navarro (E)

Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), 30120 Murcia, Spain.
Sección Genética Médica - Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Servicio Murciano de Salud, 30120 Murcia, Spain.
Departamento Cirugía, Pediatría, Obstetricia y Ginecología, Facultad de Medicina, Universidad de Murcia (UMU), 30100 Murcia, Spain.
Grupo Clínico Vinculado, Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Carmen Ayuso (C)

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Anna González-Neira (A)

Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, 28029 Madrid, Spain.

José A Riancho (JA)

IDIVAL, 39008 Cantabria, Spain.
Universidad de Cantabria, 39008 Cantabria, Spain.
Hospital U M Valdecilla, 39008 Cantabria, Spain.

Augusto Rojas-Martinez (A)

Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, 64718 Monterrey, Mexico.

Carlos Flores (C)

Genomics Division, Instituto Tecnológico y de Energías Renovables, 38600 Santa Cruz de Tenerife, Spain.
Research Unit, Hospital Universitario N.S. de Candelaria, 38010 Santa Cruz de Tenerife, Spain.
Centre for Biomedical Network Research on Respiratory Diseases (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Facultad de Ciencias de la Salud, Universidad Fernando Pessoa Canarias, 35450 Las Palmas de Gran Canaria, Spain.

Pablo Lapunzina (P)

Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.
ERN-ITHACA-European Reference Network.

Angel Carracedo (A)

Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain.
Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.
Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), 15706 Santiago de Compostela, Spain.

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