Additional file 1 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Creators: name: Matuozzo, Daniela
name: Talouarn, Estelle
name: Marchal, Astrid
name: Zhang, Peng
name: Manry, Jeremy
name: Seeleuthner, Yoann
name: Zhang, Yu
name: Bolze, Alexandre
name: Chaldebas, Matthieu
name: Milisavljevic, Baptiste
name: Gervais, Adrian
name: Bastard, Paul
name: Asano, Takaki
name: Bizien, Lucy
name: Barzaghi, Federica
name: Abolhassani, Hassan
name: Abou Tayoun, Ahmad
name: Aiuti, Alessandro
name: Alavi Darazam, Ilad
name: Allende, Luis M.
name: Alonso-Arias, Rebeca
name: Arias, Andrés Augusto
name: Aytekin, Gokhan
name: Bergman, Peter
name: Bondesan, Simone
name: Bryceson, Yenan T.
name: Bustos, Ingrid G.
name: Cabrera-Marante, Oscar
name: Carcel, Sheila
name: Carrera, Paola
name: Casari, Giorgio
name: Chaïbi, Khalil
name: Colobran, Roger
name: Condino-Neto, Antonio
name: Covill, Laura E.
name: Delmonte, Ottavia M.
name: El Zein, Loubna
name: Flores, Carlos
name: Gregersen, Peter K.
name: Gut, Marta
name: Haerynck, Filomeen
name: Halwani, Rabih
name: Hancerli, Selda
name: Hammarström, Lennart
name: Hatipoğlu, Nevin
name: Karbuz, Adem
name: Keles, Sevgi
name: Kyheng, Christèle
name: Leon-Lopez, Rafael
name: Franco, Jose Luis
name: Mansouri, Davood
name: Martinez-Picado, Javier
name: Metin Akcan, Ozge
name: Migeotte, Isabelle
name: Morange, Pierre-Emmanuel
name: Morelle, Guillaume
name: Martin-Nalda, Andrea
name: Novelli, Giuseppe
name: Novelli, Antonio
name: Ozcelik, Tayfun
name: Palabiyik, Figen
name: Pan-Hammarström, Qiang
name: de Diego, Rebeca Pérez
name: Planas-Serra, Laura
name: Pleguezuelo, Daniel E.
name: Prando, Carolina
name: Pujol, Aurora
name: Reyes, Luis Felipe
name: Rivière, Jacques G.
name: Rodriguez-Gallego, Carlos
name: Rojas, Julian
name: Rovere-Querini, Patrizia
name: Schlüter, Agatha
name: Shahrooei, Mohammad
name: Sobh, Ali
name: Soler-Palacin, Pere
name: Tandjaoui-Lambiotte, Yacine
name: Tipu, Imran
name: Tresoldi, Cristina
name: Troya, Jesus
name: van de Beek, Diederik
name: Zatz, Mayana
name: Zawadzki, Pawel
name: Al-Muhsen, Saleh Zaid
name: Alosaimi, Mohammed Faraj
name: Alsohime, Fahad M.
name: Baris-Feldman, Hagit
name: Butte, Manish J.
name: Constantinescu, Stefan N.
name: Cooper, Megan A.
name: Dalgard, Clifton L.
name: Fellay, Jacques
name: Heath, James R.
name: Lau, Yu-Lung
name: Lifton, Richard P.
name: Maniatis, Tom
name: Mogensen, Trine H.
name: von Bernuth, Horst
name: Lermine, Alban
name: Vidaud, Michel
name: Boland, Anne
name: Deleuze, Jean-François
name: Nussbaum, Robert
name: Kahn-Kirby, Amanda
name: Mentre, France
name: Tubiana, Sarah
name: Gorochov, Guy
name: Tubach, Florence
name: Hausfater, Pierre
name: Meyts, Isabelle
name: Zhang, Shen-Ying
name: Puel, Anne
name: Notarangelo, Luigi D.
name: Boisson-Dupuis, Stephanie
name: Su, Helen C.
name: Boisson, Bertrand
name: Jouanguy, Emmanuelle
name: Casanova, Jean-Laurent
name: Zhang, Qian
name: Abel, Laurent
name: Cobat, Aurélie
Publisher: name: figshare
Year: 2023
Subjects: subject: Genetics
subject: FOS: Biological sciences

description: Additional file 1: Supplementary Methods. Fig S1. Luciferase assay on HEK293T cells transfected with the pGL4.32 luciferase reporter construct and an expression vector for Renilla luciferase together with no vector (mock), EV, WT, or 4 TLR7 variants found in our cohort. After 24 h, transfected cells were left untreated or were treated by incubation with 1 μg/mL R848 for 24 h. These data were established from two independent experiments. The y-axis represents NF-κB transcriptional activity as a percentage of the WT. The x-axis indicates the alleles used for transfection. Fig S2. Age distribution as boxplot and violin plot of the critical COVID-19 cases according to the carrier status of pLOF/bLOF at 15 type I IFN-related loci. Mean age of the patients for each category is shown in red. T-test was used to compare the means, showing a significant difference between non-carriers and carriers of heterozygous or homozygous/hemizygous variants (P = 2.2 × 10−6) and between heterozygous carriers and homozygous/hemizygous carriers (P = 0.008). Fig S3. Empirical power of our sample to detect an association at the 2.5 × 10−6 exome-wide significance threshold for various relative risks and proportion of carriers of at least one disease causing variant in the general population (PD), as estimated by simulation study (N = 1000 replicates).