Stratified analyses refine association between TLR7 rare variants and severe COVID-19.

SARS-CoV-2 Toll-like receptor 7 burden analysis host genetics immune deficiency infection innate immunity rare variants targeted sequencing variant collapsing analysis

Journal

HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885

Informations de publication

Date de publication:
28 Jun 2024
Historique:
received: 16 02 2024
revised: 26 06 2024
accepted: 25 06 2024
medline: 30 6 2024
pubmed: 30 6 2024
entrez: 30 6 2024
Statut: aheadofprint

Résumé

Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence were sequenced in 1,772 severe COVID-19 cases and 5,347 population-based controls from Spain/Italy. Rare deleterious TLR7 variants were present in 2.4% of young (<60 years) cases with no reported clinical risk factors (n=378), compared to 0.24% of controls (odds ratio (OR)=12.3, p=1.27x10

Identifiants

DOI: 10.1016/j.xhgg.2024.100323 PMID: 38944683
pubmed: 38944683
pii: S2666-2477(24)00063-0
doi: 10.1016/j.xhgg.2024.100323
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

100323

Informations de copyright

Copyright © 2024. Published by Elsevier Inc.

Auteurs

Jannik Boos (J)

Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany.

Caspar I van der Made (CI)

Department of Human Genetics; Department of Internal Medicine; Radboudumc Research Institute for Medical Innovation; Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

Gayatri Ramakrishnan (G)

Department of Medical Biosciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Eamon Coughlan (E)

Baillie Gifford Pandemic Science Hub, Centre for Inflammation Research, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK; Roslin Institute, University of Edinburgh, Edinburgh, UK.

Rosanna Asselta (R)

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy; IRCCS Humanitas Research Hospital - via Manzoni 56, 20089 Rozzano, Milan, Italy.

Britt-Sabina Löscher (BS)

Institute of Clinical Molecular Biology, Kiel University and University Medical Center, Kiel, Germany.

Luca V C Valenti (LVC)

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Rafael de Cid (R)

Genomes for Life-GCAT Lab, CORE Program. Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain; Grup de Recerca en Impacte de les Malalties Cròniques i les seves Trajectòries (GRIMTra) (IGTP), Badalona, Spain.

Luis Bujanda (L)

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

Antonio Julià (A)

Vall d'Hebron Hospital Research Institute, Barcelona, Spain.

Erola Pairo-Castineira (E)

Baillie Gifford Pandemic Science Hub, Centre for Inflammation Research, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK; Roslin Institute, University of Edinburgh, Edinburgh, UK.

J Kenneth Baillie (JK)

Baillie Gifford Pandemic Science Hub, Centre for Inflammation Research, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK; Roslin Institute, University of Edinburgh, Edinburgh, UK.

Sandra May (S)

Institute of Clinical Molecular Biology, Kiel University and University Medical Center, Kiel, Germany.

Berina Zametica (B)

Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany.

Julia Heggemann (J)

Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany.

Agustín Albillos (A)

Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain; Department of Gastroenterology, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), University of Alcalá, Madrid, Spain.

Jesus M Banales (JM)

Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute, Donostia University Hospital, University of the Basque Country (UPV/EHU), San Sebastian, Spain; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain; IKERBASQUE, Basque Foundation for Science, Bilbao, Spain; Department of Biochemistry and Genetics, School of Sciences, University of Navarra, Pamplona, Spain.

Jordi Barretina (J)

Genomes for Life-GCAT Lab, CORE Program. Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.

Natalia Blay (N)

Genomes for Life-GCAT Lab, CORE Program. Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain; Grup de Recerca en Impacte de les Malalties Cròniques i les seves Trajectòries (GRIMTra) (IGTP), Badalona, Spain.

Paolo Bonfanti (P)

Division of Infectious Diseases, Università degli Studi di Milano Bicocca, Fondazione San Gerardo dei Tintori, Monza, Italy.

Maria Buti (M)

Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Javier Fernandez (J)

Hospital Clinic, University of Barcelona, Barcelona, Spain; European Foundation for the Study of Chronic Liver Failure (EF CLif), Barcelona, Spain.

Sara Marsal (S)

Vall d'Hebron Hospital Research Institute, Barcelona, Spain.

Daniele Prati (D)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Luisa Ronzoni (L)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Nicoletta Sacchi (N)

IBMDR, E.O. Ospedali Galliera, Genova, Italy.

Joachim L Schultze (JL)

Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) e.V., Bonn, Germany; Genomics and Immunoregulation, Life & Medical Sciences (LIMES) Institute, University of Bonn, Bonn, Germany; PRECISE Platform for Genomics and Epigenomics, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) e.V. and University of Bonn, Bonn, Germany.

Olaf Riess (O)

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; DFG NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.

Andre Franke (A)

Institute of Clinical Molecular Biology, Kiel University and University Medical Center, Kiel, Germany.

Konrad Rawlik (K)

Baillie Gifford Pandemic Science Hub, Centre for Inflammation Research, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK.

David Ellinghaus (D)

Institute of Clinical Molecular Biology, Kiel University and University Medical Center, Kiel, Germany.

Alexander Hoischen (A)

Department of Human Genetics; Department of Internal Medicine; Radboudumc Research Institute for Medical Innovation; Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

Axel Schmidt (A)

Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany.

Kerstin U Ludwig (KU)

Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany. Electronic address: kerstin.ludwig@uni-bonn.de.

Classifications MeSH