TY - JOUR
T1 - Detailed stratified GWAS analysis for severe COVID-19 in four European populations
AU - COVICAT study group, Aachen Study (COVAS)
AU - Norwegian SARS-CoV-2 Study group
AU - Pa Study Group
AU - STORM Study group, The Humanitas Task Force, The Humanitas Gavazzeni Task Force
AU - Degenhardt, Frauke
AU - Ellinghaus, David
AU - Juzenas, Simonas
AU - Lerga-Jaso, Jon
AU - Wendorff, Mareike
AU - Maya-Miles, Douglas
AU - Uellendahl-Werth, Florian
AU - ElAbd, Hesham
AU - Rühlemann, Malte C.
AU - Arora, Jatin
AU - Özer, Onur
AU - Lenning, Ole Bernt
AU - Myhre, Ronny
AU - Vadla, May Sissel
AU - Wacker, Eike M.
AU - Wienbrandt, Lars
AU - Ortiz, Aaron Blandino
AU - de Salazar, Adolfo
AU - Chercoles, Adolfo Garrido
AU - Palom, Adriana
AU - Ruiz, Agustín
AU - Garcia-Fernandez, Alba Estela
AU - Blanco-Grau, Albert
AU - Mantovani, Alberto
AU - Zanella, Alberto
AU - Holten, Aleksander Rygh
AU - Mayer, Alena
AU - Bandera, Alessandra
AU - Cherubini, Alessandro
AU - Protti, Alessandro
AU - Aghemo, Alessio
AU - Gerussi, Alessio
AU - Ramirez, Alfredo
AU - Braun, Alice
AU - Nebel, Almut
AU - Barreira, Ana
AU - Lleo, Ana
AU - Teles, Ana
AU - Kildal, Anders Benjamin
AU - Biondi, Andrea
AU - Caballero-Garralda, Andrea
AU - Ganna, Andrea
AU - Gori, Andrea
AU - Glück, Andreas
AU - Lind, Andreas
AU - Tanck, Anja
AU - Hinney, Anke
AU - Nolla, Anna Carreras
AU - Fracanzani, Anna Ludovica
AU - Protzer, Ulrike
N1 - Publisher Copyright:
© The Author(s) 2022.
PY - 2022
Y1 - 2022
N2 - 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 genome-wide association 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 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.
AB - 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 genome-wide association 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 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.
UR - http://www.scopus.com/inward/record.url?scp=85138615657&partnerID=8YFLogxK
U2 - 10.1093/hmg/ddac158
DO - 10.1093/hmg/ddac158
M3 - Article
C2 - 35848942
AN - SCOPUS:85138615657
SN - 0964-6906
VL - 31
SP - 3945
EP - 3966
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 23
ER -
