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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 (Hospital Universitario San Cecilio (Granada)) ;
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 (Hospital Universitario San Cecilio (Granada)) ;
Callejas Rubio, Jose Luis (Hospital Universitario San Cecilio (Granada)) ;
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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Interstitial lung disease and anti-myeloperoxidase antibodies : Not a simple association
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Sebastiani, M. (Rheumatology Unit. Azienda Ospedaliera Policlinico di Modena. University of Modena and Reggio Emilia) ;
Luppi, F. (Department of Medicine and Surgery. University of Milano Bicocca. Respiratory Unit. San Gerardo Hospital. ASST di Monza) ;
Sambataro, G. (Regional Referral Centre for Rare Lung Diseases. A.O.U. "Policlinico-Vittorio Emanuele". Department of Clinical and Experimental Medicine. University of Catania) ;
Castillo, Diego (Institut d'Investigació Biomèdica Sant Pau) ;
Cerri, S. (Respiratory Unit. University of Modena and Reggio Emilia) ;
Tomietto, P. (Rheumatology Unit. University of Trieste) ;
Cassone, G. (PhD Program in Clinical and Experimental Medicine. University of Modena and Reggio Emilia) ;
Bocchino, M. (Department of Clinical Medicine and Surgery. Federico II University Hospital) ;
Atienza-Mateo, Belén (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Cameli, Paolo (University of Siena. Department of Medicine. Surgery & Neurosciences) ;
Moya, Patricia (Institut d'Investigació Biomèdica Sant Pau) ;
Faverio, P. (Department of Medicine and Surgery. University of Milano Bicocca. Respiratory Unit. San Gerardo Hospital. ASST di Monza) ;
Bargagli, E. (Respiratory Diseases Unit. Department of Medical Sciences. Surgery and Neurosciences. Siena University) ;
Vancheri, C. (Regional Referral Centre for Rare Lung Diseases. A.O.U. "Policlinico-Vittorio Emanuele". Department of Clinical and Experimental Medicine. University of Catania) ;
Gonzalez-Gay, M.A. (Cardiovascular Pathophysiology and Genomics Research Unit. School of Physiology. Faculty of Health Sciences. University of the Witwatersrand) ;
Clini, E. (Respiratory Unit. University of Modena and Reggio Emilia) ;
Salvarani, C. (Rheumatology Unit. Irccs Arcispedale Santa Maria Nuova. Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia) ;
Manfredi, A. (Rheumatology Unit. Azienda Ospedaliera Policlinico di Modena. University of Modena and Reggio Emilia)
Anti-neutrophil cytoplasmic antibodies (ANCA), mainly anti-myeloperoxidase (MPO) antibodies, have been frequently identified in patients with idiopathic pulmonary fibrosis (IPF). However, their role remains unclear, and only 7-23% of these patients develops clinically overt vasculitis. [...]
2021 - 10.3390/jcm10122548
Journal of clinical medicine, Vol. 10 Núm. 12 (february 2021) , p. 2548
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