Detailed stratified GWAS analysis for severe COVID-19 in four European populations

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  • Frauke Degenhardt
  • David Ellinghaus
  • Simonas Juzenas
  • Jon Lerga-Jaso
  • Mareike Wendorff
  • Douglas Maya-Miles
  • Florian Uellendahl-Werth
  • Hesham ElAbd
  • Malte C Rühlemann
  • Jatin Arora
  • Onur Özer
  • Ole Bernt Lenning
  • Ronny Myhre
  • May Sissel Vadla
  • Eike M Wacker
  • Lars Wienbrandt
  • Aaron Blandino Ortiz
  • Adolfo Salazar
  • Adolfo Garrido Chercoles
  • Adriana Palom
  • Agustín Ruiz
  • Alba-Estela Garcia-Fernandez
  • Albert Blanco-Grau
  • Alberto Mantovani
  • Alberto Zanella
  • Aleksander Rygh Holten
  • Alena Mayer
  • Alessandra Bandera
  • Alessandro Cherubini
  • Alessandro Protti
  • Alessio Aghemo
  • Alessio Gerussi
  • Alfredo Ramirez
  • Alice Braun
  • Almut Nebel
  • Ana Barreira
  • Ana Lleo
  • Ana Teles
  • Anders Benjamin Kildal
  • Andrea Biondi
  • Andrea Caballero-Garralda
  • Andrea Ganna
  • Andrea Gori
  • Andreas Glück
  • Andreas Lind
  • Anke Hinney
  • Björn Jensen
  • Banasik, Karina
  • Pedro Castro
  • Brunak, Søren
  • COVICAT study group, Aachen Study (COVAS)

Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended GWAS meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen (HLA) region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a ~ 0.9-Mb inversion polymorphism that creates two highly differentiated haplotypes and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative including non-Caucasian individuals, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.

Original languageEnglish
JournalHuman Molecular Genetics
Issue number23
Pages (from-to)3945-3966
Number of pages22
Publication statusPublished - 2022

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