P1292: Identifying genetic markers of fibrostenosis in patients with Crohn’s diseaseECCO'25Year: 2025
Authors: Celis, J.(1,2)*;Fouquaert, S.(1,2);Holvoet, T.(3,4);Jans, D.(5);Bossuyt, P.(6,7);De Kock, I.(8);Hindryckx, P.(1,3);Louis, E.(9);Vermeire, S.(6,10);De Vos, M.(1,3);Cleynen, I.(5);Laukens, D.(1,2);
(1)Ghent University, Ghent Gut Inflammation Group GGIG, Ghent, Belgium;(2)VIB, UGent Center for Inflammation Research IRC, Ghent, Belgium;(3)Ghent University Hospital, Department of Gastroenterology, Ghent, Belgium;(4)VITAZ, Gastroenterology, Sint-Niklaas, Belgium;(5)KU Leuven, Department of Human Genetics, Leuven, Belgium;(6)University Hospital Leuven, Department of Gastroenterology and Hepatology, Leuven, Belgium;(7)Imelda GI Clinical Research Centre, Department of Gastroenterology, Bonheiden, Belgium;(8)Ghent University Hospital, Department of Radiology, Ghent, Belgium;(9)CHU Liege, Department of Gastroenterology, Liege, Belgium;(10)KU Leuven, Translational Research Center for Gastrointestinal Disorders TARGID - Department of Chronic Diseases- Metabolism and Ageing, Leuven, Belgium; IBD Research Unit
References
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P1293: Novel mutations in SASH3 cause very early onset IBD by impairing the NF-kB and mTORC1 pathwaysECCO'25Year: 2025
Authors: Tang, W.(1)*;Piao, L.(2);Zhong, H.(3); Mao, J.(4);Jiang , Z.(4);Huang, T.(2,5);Huang, Y.(1);
(1)National Children’s Medical Center- Children’s Hospital of Fudan University, Department of Gastroenterology- Pediatric Inflammatory Bowel Disease Research Center, Shanghai, China;(2)Fudan University, School of Life Sciences- Institute of Medical Genetics and Genomics, Shanghai, China;(3)National Children’s Medical Center- Children’s Hospital of Fudan University, Department of Pediatric Institute, Shanghai, China;(4)Sir Run Run Shaw Hospital of Zhejiang University, Department of pathology, Hangzhou, China;(5)National Children’s Medical Center- Children’s Hospital of Fudan University, Department of Clinical Genetics, Shanghai, China;
P1295: Transcriptional analysis of chronic enteropathy associated with SLCO2A1 gene at single-cell resolutionECCO'25Year: 2025
Authors: Dong, Y.(1)*;Huang, J.(2);Zhang, Y.(3);Wang, Q.(2);Liu, Y.(4);Liu, C.(3,5);Li, Y.(2);
(1)Peking Union Medical College, Eight-Year Program of Clinical Medicine, Beijing, China;(2)Peking Union Medical College Hospital- Chinese Academy of Medical Sciences & Peking Union Medical College, Department of Gastroenterology, Beijing, China;(3)Institute of Basic Medical Sciences Chinese Academy of Medical Sciences- School of Basic Medicine- Peking Union Medical College, Department of Biochemistry and Molecular Biology, Beijing, China;(4)Institute of Basic Medical Sciences Chinese Academy of Medical Sciences- School of Basic Medicine- Peking Union Medical College, Department of Genetics, Beijing, China;(5)Peking Union Medical College Hospital, The State Key Laboratory for Complex- Severe- and Rare Diseases, Beijing, China;
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P1296: Exploring the role of BOC mutations in Crohn's disease using whole exome sequencing and molecular dynamics simulationECCO'25Year: 2025
Authors: Zeng, C.(1);Zhou, J.(1);Zhao, X.(1)*;
(1)Nanfang Hospital- Southern Medical University, Department of Gastroenterology, Guangzhou, China;
[1]Kang JS, Mulieri PJ, Hu Y, Taliana L, Krauss RS. BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation. EMBO J. 2002;21(1-2):114-124.
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[3]Kang JS, Feinleib JL, Knox S, Ketteringham MA, Krauss RS. Promyogenic members of the Ig and cadherin families associate to positively regulate differentiation. Proc Natl Acad Sci U S A. 2003;100(7):3989-3994.
[4]Okada A, Charron F, Morin S, et al. Boc is a receptor for sonic hedgehog in the guidance of commissural axons. Nature. 2006;444(7117):369-373.
P1297: Family History of Inflammatory Bowel Disease: Prevalence and Its Relationship with Clinical and Genetics Factors in Patients with Ulcerative Colitis and Crohn's Disease in a SouthAmerican Cohort.ECCO'25Year: 2025
Authors: Pérez, T.(1)*;Bustamante, M.L.(2);Reyes Perez, P.(3);Medina Rivera, A.(4);Cristobal, A.(5);Azocar-Lopez, L.(6);Segovia, R.(6);Aguilar, N.(7);Estela Petit, R.(8);Silva, V.(8);Arriagada, E.(8);De la Vega, A.(8);Matamala, F.(8);Chahuan, J.(6);Pavez-Ovalle, C.(7);Cofre, C.(6);Hernandez, E.(6);Miquel, J.F.(6);Alvarez-Lobos, M.(6);Hernandez-Rocha, C.(6);
(1)Pontificia Universidad Católica de Chile/Hospital San Borja Arriaran, Gastroenterologia, Santiago, Chile;(2)Universidad de Chile, Instituto de Ciencias Biomedicas. Programa de Genética Medica, Santiago, Chile;(3)Universidad Nacional Autónoma de México-, Laboratorio Internacional de Investigación sobre el Genoma Humano., Ciudad de Mexico, Mexico;(4)Universidad Nacional Autonoma de Mexico, Laboratorio Internacional de Investigación sobre el Genoma Humano, Mexico, Mexico;(5)Pontificia Universidad Católica, Departamento de Ciencia de la Computación, Santiago, Chile;(6)Pontificia Universidad Catolica, Gastroenterologia, Santiago, Chile;(7)Pontificia Universidad Católica, Gastroenterologia, Santiago, Chile;(8)Hospital San Borja Arriaran, Gastroenterologia, Santiago, Chile;
Moller FT, Andersen V, Wohlfahrt J, Jess T. Familial risk of inflammatory bowel disease: a population-based cohort study 1977-2011. Am J Gastroenterol. 2015;110(4):564-571. doi:10.1038/ajg.2015.50
Liu Z, Liu R, Gao H, et al. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. Nat Genet. 2023;55(5):796-806. doi:10.1038/s41588-023-01384-0
P1298: The Paradoxical Impact of Amerindian Ancestry on Clinical Phenotypes in Crohn's Disease and Ulcerative Colitis: A Study in a South American Population.ECCO'25Year: 2025
Authors: Pérez, T.(1)*;Bustamante , M.L.(2);Alvares, D.(3);Alvarez-Lobos, M.(4);Azocar, L.(5);Segovia Melero , R.(4);Ascui, G.(6);Aguilar , N.(4); Estela, R.(7);Hernández-Rocha, C.(4);Silva , V.(7);Kalmer, L.(8);De La Vega, A.(7);Arriagada , E.(7);Pavez-Ovalle, C.(4);Moraga Quinteros, C.(9);Miquel, J.F.(4);Di Genova , A.(9);
(1)Pontificia Universidad Católica de Chile/Hospital San Borja Arriaran, Gastroenterologia, Santiago, Chile;(2)Universidad de Chile- Santiago- Chile., Faculty of Medicine- ICBM, Santiago, Chile;(3)Cambridge University, MRC Biostatistics Unit- University of Cambridge- Cambridge- United Kingdom., Cambridge, United Kingdom;(4)Pontificia Universidad Católica de Chile, Gastroenterologia, Santiago, Chile;(5)Pontificia Universidad Católica, Gastroenterologia, Santiago, Chile;(6)La Jolla Institute for Immunology, Immunology, San Diego, United States;(7)Hospital San Borja Arriaran, Gastroenterologia, Santiago, Chile;(8)University of Cambridge, MRC Toxicology Unit., Cambridge, United Kingdom;(9)Universidad de O’Higgins, Instituto de Ciencias de la Ingeniería, Rancagua, Chile;
Ye BD, McGovern DPB. Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility. Exp Rev Clin Immunol 2016;12:1091–1107. doi: 10.1080/1744666X.2016.1184972
Jostins L, Ripke S, Weersma RK, et al. Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012;491:119–124.4
Liu JZ, Van Sommeren S, Huang H, et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet 2015;47:979–986.
Walker DG, Williams HR, Bancil AS, et al. Ethnicity differences in genetic susceptibility to ulcerative colitis: A comparison of Indian Asians and white Northern Europeans. Inflamm Bowel Dis 2013;19:2888–2894.
Pérez-Jeldres T, Pizarro B, Ascui G, et al. Ethnicity influences phenotype and clinical outcomes: comparing a South American with a North American inflammatory bowel disease cohort. Medicine 2022;101:e30216.
Pérez-Jeldres T, Magne F, Ascui G, et al. Amerindian ancestry proportion as a risk factor for inflammatory bowel diseases: results from a Latin American Andean cohort. Front Med (Lausanne). 2023;10:1258395. Published 2023 Oct 27. doi:10.3389/fmed.2023.1258395
P1299: Modulation of miR-31-5p expression in patients with Ulcerative Colitis treated with infliximabECCO'25Year: 2025
Authors: Pereira, J.(1)*;Grillo, T.(1);Oliveira, E.(1);Baima, J.(1);Quaglio, A.E.(2);Costa, E.(3);Di Stasi, L.(3);Sassaki, L.(1);
(1)Sao Paulo State University Medical School, Department of Internal Medicine, Botucatu, Brazil;(2)Verum Ingredients, Botucatu Technology Park, Botucatu, Brazil;(3)Sao Paulo State University Institute of Biosciences, Department of Biophysics and Pharmacology, Botucatu, Brazil;
P1300: HLA-C*06 Genotype and Ustekinumab Therapy Persistence in Inflammatory Bowel DiseaseECCO'25Year: 2025
Authors: Corcoran, R.(1,2)*;Ryan, A.(3);Doherty, J.(1,2,4);Quinn, E.(3);Conroy, J.(3);Conroy, J.(3);O'Hara, F.(5);Cullen, G.(4,6,7);Sheridan, J.(4,6,7);Bailey, Y.(5);Dunne, C.(1);Hartery, K.(1);McNamara, D.(5,6,8);Doherty, G.(4,6,7);Kevans, D.(1,2,6,8);
(1)St James’s Hospital, Department of Gastroenterology, Dublin, Ireland;(2)St James’s Hospital, Wellcome-HRB Clinical Research Facility, Dublin, Ireland;(3)Genuity Science Ireland Limited, Genuity Science Ireland Limited, Dublin, Ireland;(4)St Vincent's University Hospital, Department of Gastroenterology, Dublin, Ireland;(5)Tallaght University Hospital, Department of Gastroenterology, Dublin, Ireland;(6)INITIative IBD research network, INITIative IBD research network, Dublin, Ireland;(7)University College Dublin, School of Medicine, Dublin, Ireland;(8)Trinity College Dublin, Trinity Academic Gastroenterology Group, Dublin, Ireland;
- 1. Talamonti M, Galluzzo M, Chimenti S, Costanzo A. HLA-C*06 and response to ustekinumab in Caucasian patients with psoriasis: Outcome and long-term follow-up. J Am Acad Dermatol. 2016;74(2):374-5.
P1301: Bile acid composition and immunological effect in mouse model and IBD patientsECCO'25Year: 2025
Authors: Leistl, S.(1)*;Hu, K.(1);Rauh, M.(2);Neurath, M.(1,3,4);Günther, C.(1,3,4);
(1)Universitätsklinikum Erlangen, Department of Medicine 1, Erlangen, Germany;(2)Universitätsklinikum Erlangen, Clinical laboratory, Erlangen, Germany;(3)Friedrich-Alexander-Universität Erlangen-Nürnberg, FAU Profile Center Immunomedicine FAU I-MED, Erlangen, Germany;(4)Universitätsklinikum Erlangen, Deutsches Zentrum Immuntherapie DZI, Erlangen, Germany;
TRR241 IBDome Consortium, TRR 241 Research Initiative, Berlin-Erlangen, Germany
P1302: OCTN1 variants shape innate immunity and predict individual response to vedolizumab in ulcerative colitis patients: from preclinical models to AIECCO'25Year: 2025
Authors: Puca, P.(1)*;Capobianco, I.(1);Masi, L.(1);Petito, V.(1);Poscia, A.(1);Coppola, G.(1);Schiavoni, E.(1);Napolitano, D.(1);Del Chierico, F.(2);Palucci, I.(3);Laterza, L.(1);Pugliese , D.(1);Lopetuso, L.(1);Putignani, L.(4);Gasbarrini, A.(5);Giovanni , P.(6);Scaldaferri, F.(1);
(1)Fondazione Policlinico Universitario Agostino Gemelli IRCCS, IBD Unit, Rome, Italy;(2)Ospedale Pediatrico Bambino Gesù, Immunology- Rheumatology and Infectious Diseases Research Area- Unit of Research Microbiome, Rome, Italy;(3)Ospedale Pediatrico Bambino Gesù, Department of Microbiology and Clinical Virology, Rome, Italy;(4)Ospedale Pediatrico Bambino Gesù, Department of Diagnostic and Laboratory Medicine- Unit of Microbiology and Diagnostic Immunology- Unit of Microbiomics and Multimodal Laboratory Medicine Research Area- Unit of Human Microbiome, Rome, Italy;(5)Università Cattolica del Sacro Cuore- sede di Roma, 2Department of Translational Medicine and Surgery, Rome, Italy;(6)Università Cattolica del Sacro Cuore- sede di Roma, Department of Translational Medicine and Surgery, Rome, Italy;
P1303: A machine – learning approach of therapeutic response prediction for Ustekinumab in ulcerative colitisECCO'25Year: 2025
Authors: Koustenis, K.(1);Dovrolis, N.(2);Viazis, N.(1);Ioannou, A.(3);Bamias, G.(4);Karamanolis, G.(5);Gazouli, M.(6)*;
(1)Evangelismos-Polykliniki General Hospital, Gastroenterology Department, Athens, Greece;(2)National and Kapodistrian University of Athens, Medicine, Athens, Greece;(3)Alexandra Hospital, Gastroenterology, Athens, Greece;(4)3rd Academic Department of Internal Medicine- National and Kapodistrian University of Athens, Gastroenterology, Athens, Greece;(5)Second Department of Surgery- Aretaieio Hospital- Medical School- National and Kapodistrian University of Athens, Gastroenterology, Athens, Greece;(6)School Of Medicine- National and Kapodistrian University of Athens, Medicine, Athens, Greece;
P1304: High prevalence of HLA DRB1*01:03 in Australian Inflammatory Bowel Disease patients without prediction of refractory disease.ECCO'25Year: 2025
Authors: Peterson, A.(1)*;Zorkau, I.(2);Liu, Y.(2);Tan, E.T.(2);Lee, M.(2);Moore, G.(1);Ooi, J.(2);Goldberg, R.(2);
(1)Monash Health, Gastroenterology, Clayton, Australia;(2)Monash University, Department of Medicine, Clayton, Australia;
1. Stokkers PCF, Reitsma PH, Tytgat GNJ, van Deventer SJH. HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis. Gut. 1999;45(3):395-401.
2. Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L, Huang H, et al. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. Nature Genetics. 2015;47(2):172-9
3. Ahmad T, Armuzzi A, Neville M, Bunce M, Ling K-L, Welsh KI, et al. The contribution of human leucocyte antigen complex genes to disease phenotype in ulcerative colitis. Tissue Antigens. 2003;62(6):527-35.
4. Degenhardt F, Mayr G, Wendorff M, Boucher G, Ellinghaus E, Ellinghaus D, et al. Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations. Human Molecular Genetics. 2021;30(5):356-69.
P1305: Prediction of extraintestinal manifestations in inflammatory bowel disease using clinical and genetic variables with machine learning.ECCO'25Year: 2025
Authors: Pérez, T.(1)*;Bustamante, M.L.(2);Reyes Pérez, P.(3);Medina Rivera, A.(3);Avendano, C.(4);Azocar, L.(5);Estela, R.(6);Aguilar, N.(5);Segovia Melero, R.(5);Silva , V.(6);De La Vega, A.(6);Arriagada , E.(6);Javier, C.(5);Hernandez, E.(5);Pavez-Ovalle, C.(5);Hernández-Rocha, C.(5);Miquel, J.F.(5);Alvarez-Lobos, M.(5);
(1)Pontificia Universidad Católica de Chile & Hospital San Borja Arriaran, Gastroenterologia, Santiago, Chile;(2)Universidad de Chile, ICBM- Programa de Genetica Medica, Santiago, Chile;(3)Universidad Nacional Autónoma de México, Laboratorio Internacional de Investigación sobre el Genoma Humano, Mexico, Mexico;(4)Pontificia Universidad Católica de Chile, Departamento de Ciencias de la Computación, Santiago, Chile;(5)Pontificia Universidad Católica de Chile, Gastroenterologia, Santiago, Chile;(6)Hospital san Borja Arriaran, Gastroenterologia, Santiago, Chile;
Khrom M, Long M, Dube S, et al. Comprehensive Association Analyses of Extraintestinal Manifestations in Inflammatory Bowel Disease. Gastroenterology. 2024;167(2):315-332. doi:10.1053/j.gastro.2024.02.026
Gordon H, Burisch J, Ellul P, et al. ECCO Guidelines on Extraintestinal Manifestations in Inflammatory Bowel Disease. J Crohns Colitis. 2024;18(1):1-37. doi:10.1093/ecco-jcc/jjad108
P1306: Impact of HLA-DQA1*05 genotype in immunogenicity and response to treatment with Tumour Necrosis Factor-alpha Antagonists in Inflammatory Bowel Disease patientsECCO'25Year: 2025
Authors: Moreno Torres, V.(1)*;Mira, C.(1);Madero-Velázquez, L.(1);Muñoz, R.(1);Belén-Galipienso, O.(1);Cameo, J.I.(1);Bernal, L.(1);García-Trueba, A.(1);Sempere, L.(1);Gutiérrez-Casbas, A.(2);
(1)Hospital General Universitario de Alicante Dr. Balmis, Gastroenterology, Alicante, Spain;(2)Hospital General Universitario de Alicante Dr. Balmis. ISABIAL. CIBERehd., Gastroenterology, Alicante, Spain;
P1307: Variant in Complement Factor B is associated with perianal disease in Ulcerative ColitisECCO'25Year: 2025
Authors: Phillips , J.(1,2,3);Kumar , R.(1);Mortlock , S.(4);Lord , A.(5);Simms , L.(6);Croft , A.(3);Walker , G.(1,3)*;Radford-Smith , G.(1,3);
(1)QIMR Berghofer Medical Research Institute, Gut Health Lab, Brisbane, Australia;(2)The University of Queensland, Faculty of Medicine, Brisbane, Australia;(3)Royal Brisbane and Women's Hospital, Department of Gastroenterology and Hepatology, Brisbane, Australia;(4)The University of Queensland, Australian Women and Girls’ Health Research AWaGHR Centre- School of Public Health, Brisbane, Australia;(5)Metro South Health, Data Science, Brisbane, Australia;(6)Microbio, Research, Brisbane, Australia;
1. Choi YS, Kim DS, Lee DH, Lee JB, Lee EJ, Lee SD, et al. Clinical Characteristics and Incidence of Perianal Diseases in Patients With Ulcerative Colitis. Ann Coloproctol. 2018;34(3):138-43.
2. Akhlaghpour M, Haritunians T, More SK, Thomas LS, Stamps DT, Dube S, et al. Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis. Gut. 2023;72(11):2068-80.
3. Mortlock S, Lord A, Montgomery G, Zakrzewski M, Simms LA, Krishnaprasad K, et al. An Extremes of Phenotype Approach Confirms Significant Genetic Heterogeneity in Patients with Ulcerative Colitis. J Crohns Colitis. 2023;17(2):277-88.
P1308: The ApaI polymorphism in the vitamin D receptor (VDR) gene affects the phenotype and complications of Crohn’s disease.ECCO'25Year: 2025
Authors: Tsounis, E.(1)*;Kafentzi, T.(1);Tourkochristou, E.(1);Avramopoulou, E.(1);Aggeletopoulou, I.(1);Geramoutsos, G.(1);Sotiropoulos, C.(1);Thomopoulos, K.(1);Theocharis, G.(1);Triantos, C.(1);
(1)University Hospital of Patras, Division of Gastroenterology- Department of Internal Medicine, Patras, Greece;
1. Aggeletopoulou I, Marangos M, Assimakopoulos SF, Mouzaki A, Thomopoulos K, Triantos C. Vitamin D and Microbiome: Molecular Interaction in Inflammatory Bowel Disease Pathogenesis. Am J Pathol. 2023;193(6):656-668. doi:10.1016/j.ajpath.2023.02.004
2.Triantos C, Aggeletopoulou I, Mantzaris GJ, Mouzaki A. Molecular basis of vitamin D action in inflammatory bowel disease. Autoimmun Rev. 2022;21(8):103136. doi:10.1016/j.autrev.2022.103136
P1309: Is there any association between genetic polymorphisms and response to Anti-TNFs in patients with inflammatory bowel disease ? Experience of a Tunisian IBD centerECCO'25Year: 2025
Authors: Harrathi, S.(1)*;Hammami, A.(2);Idriss, N.(3);Medhioub, M.(4);Jaziri, H.(2);Dahmeni, W.(2);Braham, A.(2);Ajmi, S.(2);Ben Slema, A.(2);Hamzaoui, L.(4);Ben Hadj Slema, F.(3);Elleuch, N.(2);Ksiaa, M.(2);
(1)Ibn El Jazzar Hospital, Gastro-enterology, kairouan, Tunisia;(2)Sahloul Hospital, Gastro-enterology, sousse, Tunisia;(3)Faculty of Medicine of Sousse, Research unit in Immunogenetics, sousse, Tunisia;(4)Med Taher Maamouri Hospital, Gastro-enterology, Nabeul, Tunisia;
P1310: Role of gut pathobiont-derived membrane vesicles for biliary epithelium in PSC-IBDECCO'25Year: 2025
Authors: Schwendner, R.(1)*;Stolzer, I.(1);Mattner, J.(2);Leistl, S.(1);Hensel, I.(1);Schloderer, J.(1);Böllet, A.(1);Schaufler, K.(3);Tripal, P.(4);Neurath, M.F.(1);Günther, C.(1);
(1)Universitätsklinikum Erlangen, Department of Medicine 1, Erlangen, Germany;(2)Universitätsklinikum Erlangen, Microbiology Institute -Clinical Microbiology- Immunology and Hygiene-University Clinic of Erlangen, Erlangen, Germany;(3)Helmholtz Centre for Infection Research, Epidemiology and ecology of antimicrobial resistance, Greifswald, Germany;(4)Friedrich-Alexander-University Erlangen-Nuremberg, Optical Imaging Competence Centre, Erlangen, Germany;
P1311: Mucosal Microbiome Signatures Associated with Postoperative Endoscopic Recurrence in Paediatric Crohn’s DiseaseECCO'25Year: 2025
Authors: BretonMDCM- MSTR, J.(1)*;Tanes, C.(1);Wilson, N.(1);Kachelries, K.(2);Bittinger, K.(1);Mattei, P.(3);Baldassano, R.(1);
(1)Children's Hospital of Philadelphia, Department of Pediatric Gastroenterology- Hepatology and Nutrition, Philadelphia, United States;(2)Children's Hospital of Philadelphia, Department of Pediatric Gastroenterology- Hepatology and Nutrition, Phildelphia, United States;(3)Children's Hospital of Philadelphia, Department of Pediatric Surgery, Philadelphia, United States;
