ArticleGut2025
First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.
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Article in Gut, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
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Who cites it
5 citing papers in PubMed.
- Protein-protein interaction network architecture of human polygenic traits reveals domain-spanning connectivity and evolutionary pressures.Genome biology · 2026Article
- RareInternational journal of molecular sciences · 2026Article
- Modern treatment for achalasia: endoscopic and surgical therapies.The British journal of surgery · 2026Review
- Multi-organ single-cell analysis of preferential expression of CAKUT genes.BMC nephrology · 2026Article
- GWAS on idiopathic achalasia.Nature reviews. Gastroenterology & hepatology · 2026Article
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Authors and funding
88 authors.
Sandeep Grover *Institute of Human Genetics, University of Marburg, Marburg, Germany.ORCID http://orcid.org/0000-0003-2615-4916
Ines Gockel *Department of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital Leipzig, Leipzig, Germany.
Anna Latiano *Fondazione IRCCS Casa Sollievo della Sofferenza, Gastroenterology Unit, San Giovanni Rotondo, Foggia, Italy.
Anna Mokrowiecka *Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Pouria DasmehInstitute of Human Genetics, University of Marburg, Marburg, Germany.
Mira M WoutersLaboratory for Intestinal Neuroimmune Interactions, Translational Research Center for Gastrointestinal Disorders, KU Leuven Department of Chronic Diseases, Metabolism and Ageing, Leuven, Belgium.
Zuzana VackovaHepatogastroenterology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Stephan L HaasCentre for Digestive Health, Department of Gastroenterology and Rheumatology, and Karolinska Institutet, Department of Medicine, Huddinge, Stockholm, Sweden.
Tania TriantafyllouForegut Surgery Department, Hippokration General Hospital of Athens, Athens, Greece.
Nicole KreuserDepartment of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital Leipzig, Leipzig, Germany.
Jessica TrautmannInstitute of Human Genetics, University Hospital Bonn, Bonn, Germany.
Stefan NiebischDepartment of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital Leipzig, Leipzig, Germany.
Timo HessInstitute of Human Genetics, University of Marburg, Marburg, Germany.
Rene ThiemeDepartment of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital Leipzig, Leipzig, Germany.
Jessica BiggeInstitute of Human Genetics, University of Marburg, Marburg, Germany.
Hubert LouisDepartment of Gastroenterology, Hepatopancreatology and Digestive Oncology, CUB Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Eric QuertinmontLaboratory of Experimental Gastroenterology, Université Libre de Bruxelles, Brussels, Belgium.
Aline MeirhaegheUniversité 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.
Manon MuntanerUniversité 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.
Philippe AmouyelUniversité 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.
Guillaume GourcerolUniv Rouen Normandie, INSERM, Normandie Univ, ADEN UMR1073, CHU Rouen, CIC-CRB 1404, Digestive Physiology Department, F-76000, Rouen, France.ORCID http://orcid.org/0000-0001-8220-9155
Stanislas Bruley des VarannesCHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.
Francois MionDigestive Physiology, Hospices Civils de Lyon, Hopital E Herriot, F-69437, Lyon, France.
Michael ViethInstitute for Pathology, Friedrich-Alexander University Erlangen-Nürnberg, Klinikum Bayreuth, Bayreuth, Germany.
Nikolaos Scarmeas1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Orazio PalmieriFondazione IRCCS Casa Sollievo della Sofferenza, Gastroenterology Unit, San Giovanni Rotondo, Foggia, Italy.
Francesca TavanoFondazione IRCCS Casa Sollievo della Sofferenza, Gastroenterology Unit, San Giovanni Rotondo, Foggia, Italy.
Roberto De GiorgioDepartment of Translational Medicine, University of Ferrara, Ferrara, Italy.ORCID http://orcid.org/0000-0003-0867-5873
Daniela GalimbertiDepartment of Biomedical, Surgical and Dental Sciences, University of Milan, Milano, Italy.
Andrea ArighiFondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Beatrice ArosioFondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Marco BrunoErasmus MC Cancer Institute, Department of Gastroenterology & Hepatology, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Justyna Wasielica-BergerDepartment of Gastroenterology and Internal Medicine, Medical University of Bialystok, Bialystok, Poland.
Magdalena Gawron-KiszkaDepartment of Gastroenterology and Hepatology, Medical University of Silesia, Katowice, Poland.
Maria JaniakDepartment of Gastroenterology and Hepatology, Medical University of Gdansk, Gdansk, Poland.
Magdalena SiepsiakDepartment of Gastroenterology and Hepatology, Medical University of Gdansk, Gdansk, Poland.
Krystian AdrychDepartment of Gastroenterology and Hepatology, Medical University of Gdansk, Gdansk, Poland.
Tomasz MarekDepartment of Gastroenterology and Hepatology, Medical University of Silesia, Katowice, Poland.
Andrzej DabrowskiDepartment of Gastroenterology and Internal Medicine, Medical University of Bialystok, Bialystok, Poland.
Marek MajewskiDepartment of Plastic and Reconstructive Surgery, Medical University of Lublin, Lublin, Poland.
Piotr GietkaDepartment of Gastroenterology and Internal Medicine, Military Institute of Medicine, Warsaw, Poland.
Maciej GonciarzDepartment of Gastroenterology and Internal Medicine, Military Institute of Medicine, Warsaw, Poland.
Julio Pérez de la SernaDepartment of Gastroenterology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Laisy Zacarías MartínezServicio de Aparato Digestivo, Hospital Universitari Germans Trias i Pujol, Badalona, Badalona, Spain.
Vilmantas GiedraitisDepartment of Public Health and Caring Sciences, Clinical Geriatrics, Uppsala University, Uppsala, Sweden.
Lena KilanderDepartment of Public Health and Caring Sciences, Clinical Geriatrics, Uppsala University, Uppsala, Sweden.
Laura FratiglioniKarolinska Institutet, Department NVS, Division of aging research center, Center for Alzheimer Research, Solna, Sweden.
Luis Miguel RealInstituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen de Valme /CSIC/Universidad de Sevilla, Sevilla, Spain.
Julius SpicakHepatogastroenterology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Jan TackTranslational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-3206-6704
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University Hospital Bonn, Bonn, Germany.
Markus NöthenInstitute of Human Genetics, University Hospital Bonn, Bonn, Germany.
Martin IngelssonDepartment of Public Health and Caring Sciences, Molecular Geriatrics, Uppsala University, Uppsala, Sweden.
Caroline GraffKarolinska Institutet, Department NVS, Division of Neurogeriatrics, Center for Alzheimer Research, Bioclinicum, Solna, Sweden.
Agustín RuizGlenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, University of Texas Health Science Center, San Antonio, Texas, USA.
Jean-Charles LambertUniversité 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.
Alfredo RamirezDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Alexander J EckardtGastro-Praxis Wiesbaden, Wiesbaden, Germany.
Michaela MüllerDepartment of Gastroenterology, Endocrinology and Infectious Diseases, Philipps-University Marburg and University Hospital Marburg, Marburg, Germany.
Michael KnappInstitute for Medical Biometry, Informatics and Epidemiology (IMBIE), University of Bonn, Bonn, Germany.
Thaddäus T WissinowskiCenter for Inner Medicine II, Klinikum Chemnitz gGmbH, Chemnitz, Germany.
Jutta KellerMedizinische Klinik, Israelitisches Krankenhaus, Hamburg, Germany.ORCID http://orcid.org/0000-0002-5884-1115
Christiane Josephine BrunsDepartment of General, Visceral, Cancer and Transplantation Surgery, University Hospital of Cologne, Cologne, Germany.
Christian GergesDepartment of Gastroenterology, University Hospital Essen, Essen, Germany.
Horst NeuhausDepartment of Internal Medicine II, Evangelisches Krankenhaus Dusseldorf, Duesseldorf, Germany.
Thomas RöschDepartment of Interdisciplinary Endoscopy, University Hospital Hamburg-Eppendorf, Hamburg, Germany.ORCID http://orcid.org/0000-0003-2270-2495
Britta SiegmundDepartment of Gastroenterology, Infectious Diseases and Rheumatology, Charite - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0002-0055-958X
Brigitte SchumacherDepartment of Internal Medicine and Gastroenterology, Elisabeth-Krankenhaus-Essen, Essen, Germany.
Marino VeneritoDepartment of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke-University Hospital, Magdeburg, Germany.ORCID http://orcid.org/0000-0001-8581-0974
Antonio Ruiz de LeónDepartment of Gastroenterology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Riccardo RosatiDepartment of Gastrointestinal Surgery, San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
Vito AnneseDepartment of Gastroenterology, Careggi Hospital, University of Florence, Florence, Italy.
Uberto FumagalliDepartment of Surgery, Istituto Clinico Humanitas, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy.
Luigi LaghiDepartment of Gastroenterology, Istituto Clinico Humanitas, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy.ORCID http://orcid.org/0000-0003-4187-1059
Elena UrcelayLab-Genetics and molecular basis of complex diseases, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Fabienne VavasseurCHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.
Sabine RomanDigestive Physiology, Hospices Civils de Lyon, Hopital E Herriot, F-69437, Lyon, France.ORCID http://orcid.org/0000-0002-7798-7638
Pinghong ZhouEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0002-5434-0540
Quanlin LiEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0002-9108-8786
Zuqiang LiuEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Burkhard H A von RahdenDepartment of Surgery, Paracelsus Medical University, Salzburg, Austria.
Dimitris TheodorouForegut Surgery Department, Hippokration General Hospital of Athens, Athens, Greece.
Ewa Malecka-WojcieskoDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Carlo MajInstitute of Human Genetics, University of Marburg, Marburg, Germany.
Ana G Vigo *Lab-Genetics and molecular basis of complex diseases, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Jan Martinek *Institute of Physiology, Charles University in Prague, Prague, Czech Republic.ORCID http://orcid.org/0000-0002-1415-4719
Guy Boeckxstaens *Laboratory for Intestinal Neuroimmune Interactions, Translational Research Center for Gastrointestinal Disorders, KU Leuven Department of Chronic Diseases, Metabolism and Ageing, Leuven, Belgium.ORCID http://orcid.org/0000-0001-8267-5797
Johannes Schumacher *Institute of Human Genetics, University of Marburg, Marburg, Germany johannes.schumacher@uni-marburg.de.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIdiopathic achalasia (IA) is characterised by the degeneration of neurons in the myenteric plexus leading to an irreversible impaired oesophageal function. Although immune-mediated mechanisms have been proposed, the underlying aetiopathology of IA remains poorly understood.
objectiveThis study aimed to uncover the genetic risk architecture of IA.
designWe carried out the first genome-wide association study (GWAS) on 4602 European patients with IA and 10 766 ethnically-matched controls.
resultsA single nucleotide polymorphism (SNP) in
conclusionThis GWAS led to the identification of SNPs, cellular mechanisms and cell types that are involved in IA aetiopathology.
Indexed as
ACHALASIAGENETIC POLYMORPHISMSGENETICSHLA CLASS II ALLELESRNA EXPRESSION
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