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First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.

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第一作者: Sandeep,Grover
第一单位: Institute of Human Genetics, University of Marburg, Marburg, Germany.
作者: Sandeep,Grover [1] ; Ines,Gockel [2] ; Anna,Latiano [3] ; Anna,Mokrowiecka [4] ; Pouria,Dasmeh [1] ; Mira M,Wouters [5] ; Zuzana,Vackova [6] ; Stephan L,Haas [7] ; Tania,Triantafyllou [8] ; Nicole,Kreuser [2] ; Jessica,Trautmann [9] ; Stefan,Niebisch [2] ; Timo,Hess [1] ; Rene,Thieme [2] ; Jessica,Bigge [1] ; Hubert,Louis [10] ; Eric,Quertinmont [11] ; Aline,Meirhaeghe [12] ; Manon,Muntaner [12] ; Philippe,Amouyel [12] ; Guillaume,Gourcerol [13] ; Stanislas,Bruley des Varannes [14] ; Francois,Mion [15] ; Michael,Vieth [16] ; Nikolaos,Scarmeas [17] ; Orazio,Palmieri [3] ; Francesca,Tavano [3] ; Roberto,De Giorgio [18] ; Daniela,Galimberti [19] ; Andrea,Arighi [20] ; Beatrice,Arosio [21] ; Marco,Bruno [22] ; Justyna,Wasielica-Berger [23] ; Magdalena,Gawron-Kiszka [24] ; Maria,Janiak [25] ; Magdalena,Siepsiak [25] ; Krystian,Adrych [25] ; Tomasz,Marek [24] ; Andrzej,Dabrowski [23] ; Marek,Majewski [26] ; Piotr,Gietka [27] ; Maciej,Gonciarz [27] ; Julio,Pérez de la Serna [28] ; Laisy Zacarías,Martínez [29] ; Vilmantas,Giedraitis [30] ; Lena,Kilander [30] ; Laura,Fratiglioni [31] ; Luis Miguel,Real [32] ; Julius,Spicak [6] ; Jan,Tack [33] ; Stefanie,Heilmann-Heimbach [34] ; Markus,Nöthen [9] ; Martin,Ingelsson [35] ; Caroline,Graff [36] ; Agustín,Ruiz [37] ; Jean-Charles,Lambert [12] ; Alfredo,Ramirez [38] ; Alexander J,Eckardt [39] ; Michaela,Müller [40] ; Michael,Knapp [41] ; Thaddäus T,Wissinowski [42] ; Jutta,Keller [43] ; Christiane Josephine,Bruns [44] ; Christian,Gerges [45] ; Horst,Neuhaus [46] ; Thomas,Rösch [47] ; Britta,Siegmund [48] ; Brigitte,Schumacher [49] ; Marino,Venerito [50] ; Antonio,Ruiz de León [28] ; Riccardo,Rosati [51] ; Vito,Annese [52] ; Uberto,Fumagalli [53] ; Luigi,Laghi [54] ; Elena,Urcelay [55] ; Fabienne,Vavasseur [14] ; Sabine,Roman [15] ; Pinghong,Zhou [56] ; Quanlin,Li [56] ; Zuqiang,Liu [56] ; Burkhard H A von,Rahden [57] ; Dimitris,Theodorou [8] ; Ewa,Malecka-Wojciesko [4] ; Carlo,Maj [1] ; Ana G,Vigo [55] ; Jan,Martinek [58] ; Guy,Boeckxstaens [5] ; Johannes,Schumacher [59]
作者单位: Institute of Human Genetics, University of Marburg, Marburg, Germany. [1] Department of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital Leipzig, Leipzig, Germany. [2] Fondazione IRCCS Casa Sollievo della Sofferenza, Gastroenterology Unit, San Giovanni Rotondo, Foggia, Italy. [3] Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland. [4] Laboratory for Intestinal Neuroimmune Interactions, Translational Research Center for Gastrointestinal Disorders, KU Leuven Department of Chronic Diseases, Metabolism and Ageing, Leuven, Belgium. [5] Hepatogastroenterology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic. [6] Centre for Digestive Health, Department of Gastroenterology and Rheumatology, and Karolinska Institutet, Department of Medicine, Huddinge, Stockholm, Sweden. [7] Foregut Surgery Department, Hippokration General Hospital of Athens, Athens, Greece. [8] Institute of Human Genetics, University Hospital Bonn, Bonn, Germany. [9] Department of Gastroenterology, Hepatopancreatology and Digestive Oncology, CUB Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium. [10] Laboratory of Experimental Gastroenterology, Université Libre de Bruxelles, Brussels, Belgium. [11] Université de Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France. [12] Univ Rouen Normandie, INSERM, Normandie Univ, ADEN UMR1073, CHU Rouen, CIC-CRB 1404, Digestive Physiology Department, F-76000, Rouen, France. [13] CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France. [14] Digestive Physiology, Hospices Civils de Lyon, Hopital E Herriot, F-69437, Lyon, France.;Digestive Physiology, Lyon I University, F-69008, Lyon, France.;LabTAU, INSERM, Université Lyon 1, Univ Lyon, F-69003, Lyon, France. [15] Institute for Pathology, Friedrich-Alexander University Erlangen-Nürnberg, Klinikum Bayreuth, Bayreuth, Germany. [16] 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.;Department of Neurology, Columbia University, New York, New York, USA. [17] Department of Translational Medicine, University of Ferrara, Ferrara, Italy. [18] Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milano, Italy.;Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. [19] Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. [20] Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.;Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. [21] Erasmus MC Cancer Institute, Department of Gastroenterology & Hepatology, University Medical Center Rotterdam, Rotterdam, The Netherlands. [22] Department of Gastroenterology and Internal Medicine, Medical University of Bialystok, Bialystok, Poland. [23] Department of Gastroenterology and Hepatology, Medical University of Silesia, Katowice, Poland. [24] Department of Gastroenterology and Hepatology, Medical University of Gdansk, Gdansk, Poland. [25] Department of Plastic and Reconstructive Surgery, Medical University of Lublin, Lublin, Poland. [26] Department of Gastroenterology and Internal Medicine, Military Institute of Medicine, Warsaw, Poland. [27] Department of Gastroenterology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain. [28] Servicio de Aparato Digestivo, Hospital Universitari Germans Trias i Pujol, Badalona, Badalona, Spain. [29] Department of Public Health and Caring Sciences, Clinical Geriatrics, Uppsala University, Uppsala, Sweden. [30] Karolinska Institutet, Department NVS, Division of aging research center, Center for Alzheimer Research, Solna, Sweden. [31] Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen de Valme /CSIC/Universidad de Sevilla, Sevilla, Spain.;Departamento de Bioquímica Médica, Biología Molecular e Inmunología. Universidad de Sevilla, Sevilla, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain. [32] Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium.;Gastroenterology Division, University Hospitals Leuven, Leuven, Belgium. [33] Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.;NGS Core Facility, Medical Faculty, University of Bonn, Bonn, Germany. [34] Department of Public Health and Caring Sciences, Molecular Geriatrics, Uppsala University, Uppsala, Sweden.;Krembil Brain Institute, University Health Network, Toronto, Ontario, Canada.;Tanz Centre for Research in Neurodegenerative Diseases, Departments of Medicine and Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Ontario, Canada. [35] Karolinska Institutet, Department NVS, Division of Neurogeriatrics, Center for Alzheimer Research, Bioclinicum, Solna, Sweden.;Theme inflammation and Aging, Unit for hereditary Dementia, Karolinska University Hospital, Solna, Sweden. [36] Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, University of Texas Health Science Center, San Antonio, Texas, USA.;Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Barcelona, Spain.;Biomedical Research Networking Centre in Neurodegenerative Diseases (CIBERNED), Madrid, Spain. [37] Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.;Department of Neurodegenerative Disease and Geriatric Psychiatry, University of Bonn Medical Center, Bonn, Germany.;German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.;Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.;Department of Psychiatry & Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, Texas, USA. [38] Gastro-Praxis Wiesbaden, Wiesbaden, Germany. [39] Department of Gastroenterology, Endocrinology and Infectious Diseases, Philipps-University Marburg and University Hospital Marburg, Marburg, Germany. [40] Institute for Medical Biometry, Informatics and Epidemiology (IMBIE), University of Bonn, Bonn, Germany. [41] Center for Inner Medicine II, Klinikum Chemnitz gGmbH, Chemnitz, Germany. [42] Medizinische Klinik, Israelitisches Krankenhaus, Hamburg, Germany. [43] Department of General, Visceral, Cancer and Transplantation Surgery, University Hospital of Cologne, Cologne, Germany. [44] Department of Gastroenterology, University Hospital Essen, Essen, Germany. [45] Department of Internal Medicine II, Evangelisches Krankenhaus Dusseldorf, Duesseldorf, Germany. [46] Department of Interdisciplinary Endoscopy, University Hospital Hamburg-Eppendorf, Hamburg, Germany. [47] Department of Gastroenterology, Infectious Diseases and Rheumatology, Charite - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. [48] Department of Internal Medicine and Gastroenterology, Elisabeth-Krankenhaus-Essen, Essen, Germany. [49] Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke-University Hospital, Magdeburg, Germany. [50] Department of Gastrointestinal Surgery, San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy. [51] Department of Gastroenterology, Careggi Hospital, University of Florence, Florence, Italy. [52] Department of Surgery, Istituto Clinico Humanitas, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy. [53] Department of Gastroenterology, Istituto Clinico Humanitas, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy. [54] Lab-Genetics and molecular basis of complex diseases, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain. [55] Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.;Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China. [56] Department of Surgery, Paracelsus Medical University, Salzburg, Austria. [57] Institute of Physiology, Charles University in Prague, Prague, Czech Republic.;Department of Gastroenterology and Hepatology, St. Anne University Hospital, Brno, Czech Republic.;Faculty of Medicine, Ostrava University, Ostrava, Czech Republic. [58] Institute of Human Genetics, University of Marburg, Marburg, Germany johannes.schumacher@uni-marburg.de. [59]
DOI 10.1136/gutjnl-2024-334498
PMID 41136183
发布时间 2025-11-12
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