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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
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López-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ;
Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ;
Kerick, Martin (Institute of Parasitology and Biomedicine López-Neyra) ;
Assassi, Shervin (The University of Texas Health Science Center-Houston) ;
Satpathy, Ansuman (Stanford University) ;
Granja, Jeffrey (Stanford University) ;
Mumbach, Maxwell (Stanford University) ;
Beretta, Lorenzo (Referral Center for Systemic Autoimmune Diseases) ;
Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ;
Carreira, Patricia E. (Hospital Universitario 12 de Octubre) ;
Ortego-Centeno, Norberto (San Cecilio Clinic University Hospital) ;
Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ;
Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ;
Carmona, F. David (Universidad de Granada) ;
Orozco, Gisela (The University of Manchester) ;
Hunzelmann, Nicolas (University of Cologne) ;
Distler, Jörg H. W. (University of Erlangen-Nuremberg) ;
Franke, Andre (Christian-Albrechts-University of Kiel) ;
Lunardi, Claudio (Università degli Studi di Verona) ;
Moroncini, Gianluca (Università Politecnica delle Marche and Ospedali Riuniti) ;
Gabrielli, Armando (Università Politecnica delle Marche and Ospedali Riuniti) ;
de Vries-Bouwstra, Jeska (Leiden University Medical Center) ;
Wijmenga, Cisca (University of Groningen) ;
Koeleman, Bobby (University Medical Center Utrecht) ;
Nordin, Annika (Karolinska Institutet (Estocolm, Suècia)) ;
Padyukov, Leonid (Karolinska Institutet (Estocolm, Suècia)) ;
Hoffmann-Vold, Anna-Maria (Oslo University Hospital) ;
Lie, Benedicte A. (University of Oslo and Oslo University Hospital) ;
Ríos, Raquel (San Cecilio Clinic University Hospital) ;
Callejas Rubio, Jose Luis (San Cecilio Clinic University Hospital) ;
Vargas-Hitos, José Antonio (Hospital Virgen de las Nieves (Granada, Andalusia)) ;
García-Portales, Rosa (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Camps, María Teresa (Carlos Haya Hospital) ;
Fernández-Nebro, Antonio (Carlos Haya Hospital) ;
González-Escribano, Maria Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
García-Hernández, Francisco Jose (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Castillo, María Jesús (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aguirre, Mª Angeles (Hospital Reina Sofía/IMIBIC) ;
Gómez-Gracia, Inmaculada (Hospital Reina Sofía/IMIBIC) ;
Fernández-Gutiérrez, B. (San Carlos Clinic Hospital) ;
Rodríguez-Rodríguez, L. (San Carlos Clinic Hospital) ;
García de la Peña, Paloma (Madrid Norte Sanchinarro Hospital) ;
Vicente-Rabaneda, Esther Francisca (Hospital Universitario de la Princesa (Madrid)) ;
Andréu, José Luis (Puerta de Hierro Hospital-Majadahonda) ;
Fernández de Castro, Mónica (Puerta de Hierro Hospital-Majadahonda) ;
López-Longo, Francisco Javier (Hospital General Universitario Gregorio Marañón) ;
Martínez, Lina Patricia (Hospital General Universitario Gregorio Marañón) ;
Fonollosa, Vicenç (Hospital Universitari Vall d'Hebron) ;
Guillén, Alfredo Chávez (Hospital Universitari Vall d'Hebron) ;
Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona) ;
Tolosa-Vilella, Carles (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Pros, Ana (Hospital del Mar (Barcelona, Catalunya)) ;
Rodríguez-Carballeira, M. (Hospital Universitari MútuaTerrassa) ;
Narváez, Francisco J. (Hospital Universitari de Bellvitge) ;
Rubio Rivas, Manuel (Hospital Universitari de Bellvitge) ;
Ortiz-Santamaría, None (Hospital Granollers) ;
Madroñero, A.B. (Hospital General Universitario San Jorge (Osca, Aragó)) ;
González-Gay, M.A. (Universidad de Cantabria) ;
Díaz, B. (Hospital Universitario Central de Asturias) ;
Trapiella, L. (Hospital Universitario Central de Asturias) ;
Sousa, A. (Hospital Xeral-Complexo Hospitalario Universitario de Vigo) ;
Egurbide, M.V. (Hospital Universitario Cruces) ;
Fanlo-Mateo, P. (Hospital Virgen del Camino (Pamplona)) ;
Sáez-Comet, L. (Hospital Universitario Miguel Servet (Saragossa)) ;
Díaz, F. (Hospital Universitario de Canarias) ;
Hernández, None (Hospital Universitario de Canarias) ;
Beltrán, E. (Hospital General Universitario de Valencia) ;
Román-Ivorra, J.A. (Hospital Universitari i Politècnic La Fe de València) ;
Grau, E. (Hospital Universitari i Politècnic La Fe de València) ;
Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset) ;
Freire, M. (Complexo Hospitalario Universitario de Vigo) ;
Blanco-García, F.J (INIBIC-Hospital Universitario A Coruña) ;
Oreiro, N. (INIBIC-Hospital Universitario A Coruña) ;
Witte, T. (Hannover Medical School) ;
Kreuter, A. (Ruhr University Bochum) ;
Riemekasten, G. (University of Lübeck) ;
Airò, Paolo (Service of Rheumatology and Clinic Immunology Spedali Civili) ;
Magro-Checa, César (Leiden University Medical Center) ;
Voskuyl, A.E. (Amsterdam UMC. University Medical Center) ;
Vonk, Madelon C. (Radboud University Nijmegen Medical Center) ;
Hesselstrand, Roger (Lund University) ;
Proudman, Susanna (Royal Adelaide Hospital and University of Adelaide) ;
Stevens, Wendy (St. Vincent's Hospital) ;
Nikpour, Mandana (The University of Melbourne at St. Vincent's Hospital) ;
Zochling, Jane M. (University of Tasmania) ;
Sahhar, Joanne (Monash Medical Centre) ;
Roddy, Janet (Cincinnati Children's Hospital Medical Center (CCHMC). Center for Fetal and Placental Research) ;
Nash, Peter (Sunshine Coast Rheumatology) ;
Tymms, Kathleen (Canberra Rheumatology) ;
Rischmueller, Maureen (The Queen Elizabeth Hospital) ;
Lester, S. (The Queen Elizabeth Hospital) ;
Vyse, Timothy (King's College London) ;
Herrick, Ariane (NIHR Manchester Biomedical Research Centre) ;
Worthington, Jane (The University of Manchester) ;
Denton, Christopher P (Royal Free and University College Medical School) ;
Allanore, Yannick (Paris Descartes University) ;
Brown, Matthew A. (Princess Alexandra Hospital) ;
Radstake, Timothy R. D. J. (University Medical Center Utrecht) ;
Fonseca, Carmen (Royal Free and University College Medical School) ;
Chang, Howard Y. (Stanford University) ;
Mayes, Maureen D (The University of Texas Health Science Center-Houston) ;
Martín, Javier (Institute of Parasitology and Biomedicine López-Neyra) ;
Universitat Autònoma de Barcelona
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. [...]
2019 -  10.1038/s41467-019-12760-y
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 4955
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11 p, 784.4 KB |
Effectiveness and safety of tocilizumab in patients with systemic sclerosis : a propensity score matched controlled observational study of the EUSTAR cohort
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Kuster, Simon (Department of Rheumatology. University Hospital Zurich. University of Zurich) ;
Jordan, Suzana (Department of Rheumatology. University Hospital Zurich. University of Zurich) ;
Elhai, Muriel (Department of Rheumatology. Paris Descartes University. Cochin Hospital. Aphp) ;
Held, Ulrike (Department of Biostatistics at Epidemiology. Biostatistics and Prevention Institute. University of Zurich) ;
Steigmiller, Klaus (Department of Biostatistics at Epidemiology. Biostatistics and Prevention Institute. University of Zurich) ;
Bruni, Cosimo (Department of Experimental and Clinical Medicine. Division of Rheumatology. University of Florence) ;
Cacciapaglia, Fabio (Rheumatology Unit. Deto. University Hospital Polyclinic of Bari) ;
Vettori, Serena (Department of Precision Medicine. University of Campania Luigi Vanvitelli) ;
Siegert, Elise (Berlin Institute of Health at Charité) ;
Rednic, Simona (Clinica Reumatologie. University of Medicine and Pharmacy) ;
Codullo, Veronica (Department of Rheumatology. Irccs Foundation Policlinico San Matteo) ;
Airò, Paolo (Uoc Rheumatology and Clinical Immunology. Spedali Civili di Brescia) ;
Braun-Moscovici, Yolanda (B. Shine Department of Rheumatology. Rambam Health Care Campus and Technion) ;
Hunzelmann, Nicolas (University of Cologne) ;
Joao Salvador, Maria (Department of Rheumatology. Centro Hospitalar e Universitário de Coimbra) ;
Riccieri, Valeria (Department of Clinical Internal. Anesthesiological and Cardiovascular Sciences. Sapienza University of Rome) ;
Gheorghiu, Ana-Maria (Department of Internal Medicine and Rheumatology. Cantacuzino Hospital. Carol Davila University of Medicine and Pharmacy) ;
Alegre-Sancho, Juan José (Hospital Doctor Peset. Servicio de Reumatología) ;
Romanowska-Prochnicka, Katarzyna (Department of Connective Tissues Diseases. Institute of Rheumatology) ;
Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ;
Kötter, Ina (University Hospital Hamburg-Eppendorf. Division of Rheumatology and Systemic Inflammatory Diseases) ;
Truchetet, Marie-Elise (Hospital General Universitario Gregorio Marañón) ;
López-Longo, F.J. (Department of Rheumatology. National Reference Center for Systemic Autoimmune Rare Diseases. Hopital Pellegrin) ;
Novikov, Pavel I. (Department of Rheumatology. National Reference Center for Systemic Autoimmune Rare Diseases. Hopital Pellegrin) ;
Giollo, Alessandro (Rheumatology Section. Department of Medicine. University of Verona) ;
Shirai, Yuichiro (Department of Allergy and Rheumatology. Nippon Medical School) ;
Belloli, Laura (Rheumatology Unit. Asst Grande Ospedale Metropolitano Niguarda) ;
Zanatta, Elisabetta (Rheumatology Unit. Department of Clinical and Experimental Medicine. University of Padova) ;
Hachulla, Eric (Université de Lille) ;
Smith, Vanessa (Unit for Molecular Immunology and Inflammation. Vib Inflammation Research Centre (IRC)) ;
Denton, Christopher P. (Centre for Rheumatology. University College London Medical School. Royal Free Campus) ;
Ionescu, Ruxandra M. (Internal Medicine and Rheumatology Department. St. Maria Hospital. Carol Davila University of Medicine and Pharmacy) ;
Schmeiser, Tim (Krankenhaus St. Josef) ;
Distler, Joerg H.W. (Department of Internal Medicine Iii. Erlangen University Hospital) ;
Gabrielli, Armando (Dipartimento di Scienze Cliniche e Molecolari. Università Politecnica Delle Marche) ;
Hoffmann-Vold, Anna-Maria (Department of Rheumatology. Rikshospitalet University Hospital Oslo) ;
Kuwana, Masataka (Nippon Medical School Graduate School of Medicine) ;
Allanore, Yannick (Department of Rheumatology. Paris Descartes University. Cochin Hospital. Aphp) ;
Distler, Oliver (Department of Rheumatology. University Hospital Zurich. University of Zurich)
Objectives Tocilizumab showed trends for improving skin fibrosis and prevented progression of lung fibrosis in systemic sclerosis (SSc) in randomised controlled clinical trials. We aimed to assess safety and effectiveness of tocilizumab in a real-life setting using the European Scleroderma Trial and Research (EUSTAR) database. [...]
2022 - 10.1136/rmdopen-2022-002477
RMD Open, Vol. 8 Núm. 2 (march 2022) , p. e002477
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