Iván Guerra, Francisco Barros, María Chaparro, José M Benítez, María Dolores Martín-Arranz, Ruth de Francisco, Marta Piqueras, Luisa de Castro, Ana Y Carbajo, Fernando Bermejo, Miguel Mínguez, Ana Gutiérrez, Francisco Mesonero, Fiorella Cañete, Carlos González-Muñoza, Marta Calvo, Beatriz Sicilia, Erika Alfambra, Montserrat Rivero, Alfredo J Lucendo, Carlos A Tardillo, Pedro Almela, Luis Bujanda, Manuel van Domselaar, Laura Ramos, María Fernández Sánchez, Esther Hinojosa, Cristina Verdejo, Anna Gimenez, Iago Rodríguez-Lago, Noemí Manceñido, José L Pérez Calle, Mónica Del Pilar Moreno, Pedro Genaro Delgado-Guillena, Beatriz Antolín, Patricia Ramírez de la Piscina, María José Casanova, Pilar Soto Escribano, Eduardo Martín Arranz, Isabel Pérez-Martínez, Raquel Mena, Natalia García Morales, Alicia Granja, Marta Maia Boscá Watts, Rubén Francés, Cristina Fernández, Margalida Calafat, Cristina Roig-Ramos, María Isabel Vera, Ángel Carracedo, Eugeni Domènech, Javier P Gisbert
{"title":"评估与硫嘌呤相关性胰腺炎风险相关的基因变异：ENEIDA 登记的病例对照研究。","authors":"Iván Guerra, Francisco Barros, María Chaparro, José M Benítez, María Dolores Martín-Arranz, Ruth de Francisco, Marta Piqueras, Luisa de Castro, Ana Y Carbajo, Fernando Bermejo, Miguel Mínguez, Ana Gutiérrez, Francisco Mesonero, Fiorella Cañete, Carlos González-Muñoza, Marta Calvo, Beatriz Sicilia, Erika Alfambra, Montserrat Rivero, Alfredo J Lucendo, Carlos A Tardillo, Pedro Almela, Luis Bujanda, Manuel van Domselaar, Laura Ramos, María Fernández Sánchez, Esther Hinojosa, Cristina Verdejo, Anna Gimenez, Iago Rodríguez-Lago, Noemí Manceñido, José L Pérez Calle, Mónica Del Pilar Moreno, Pedro Genaro Delgado-Guillena, Beatriz Antolín, Patricia Ramírez de la Piscina, María José Casanova, Pilar Soto Escribano, Eduardo Martín Arranz, Isabel Pérez-Martínez, Raquel Mena, Natalia García Morales, Alicia Granja, Marta Maia Boscá Watts, Rubén Francés, Cristina Fernández, Margalida Calafat, Cristina Roig-Ramos, María Isabel Vera, Ángel Carracedo, Eugeni Domènech, Javier P Gisbert","doi":"10.1159/000537782","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Risk factors for developing pancreatitis due to thiopurines in patients with inflammatory bowel disease (IBD) are not clearly identified. Our aim was to evaluate the predictive pharmacogenetic risk of pancreatitis in IBD patients treated with thiopurines.</p><p><strong>Methods: </strong>We conducted an observational pharmacogenetic study of acute pancreatitis events in a cohort study of IBD patients treated with thiopurines from the prospectively maintained ENEIDA registry biobank of GETECCU. Samples were obtained and the CASR, CEL, CFTR, CDLN2, CTRC, SPINK1, CPA1, and PRSS1 genes, selected based on their known association with pancreatitis, were fully sequenced.</p><p><strong>Results: </strong>Ninety-five cases and 105 controls were enrolled; a total of 57% were women. Median age at pancreatitis diagnosis was 39 years. We identified 81 benign variants (50 in cases and 67 in controls) and a total of 35 distinct rare pathogenic and unknown significance variants (10 in CEL, 21 in CFTR, 1 in CDLN2, and 3 in CPA1). None of the cases or controls carried pancreatitis-predisposing variants within the CASR, CPA1, PRSS1, and SPINK1 genes, nor a pathogenic CFTR mutation. Four different variants of unknown significance were detected in the CDLN and CPA1 genes; one of them was in the CDLN gene in a single patient with pancreatitis and 3 in the CPA1 gene in 5 controls. After the analysis of the variants detected, no significant differences were observed between cases and controls.</p><p><strong>Conclusion: </strong>In patients with IBD, genes known to cause pancreatitis seem not to be involved in thiopurine-related pancreatitis onset.</p>","PeriodicalId":11294,"journal":{"name":"Digestive Diseases","volume":" ","pages":"257-264"},"PeriodicalIF":2.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry.\",\"authors\":\"Iván Guerra, Francisco Barros, María Chaparro, José M Benítez, María Dolores Martín-Arranz, Ruth de Francisco, Marta Piqueras, Luisa de Castro, Ana Y Carbajo, Fernando Bermejo, Miguel Mínguez, Ana Gutiérrez, Francisco Mesonero, Fiorella Cañete, Carlos González-Muñoza, Marta Calvo, Beatriz Sicilia, Erika Alfambra, Montserrat Rivero, Alfredo J Lucendo, Carlos A Tardillo, Pedro Almela, Luis Bujanda, Manuel van Domselaar, Laura Ramos, María Fernández Sánchez, Esther Hinojosa, Cristina Verdejo, Anna Gimenez, Iago Rodríguez-Lago, Noemí Manceñido, José L Pérez Calle, Mónica Del Pilar Moreno, Pedro Genaro Delgado-Guillena, Beatriz Antolín, Patricia Ramírez de la Piscina, María José Casanova, Pilar Soto Escribano, Eduardo Martín Arranz, Isabel Pérez-Martínez, Raquel Mena, Natalia García Morales, Alicia Granja, Marta Maia Boscá Watts, Rubén Francés, Cristina Fernández, Margalida Calafat, Cristina Roig-Ramos, María Isabel Vera, Ángel Carracedo, Eugeni Domènech, Javier P Gisbert\",\"doi\":\"10.1159/000537782\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Risk factors for developing pancreatitis due to thiopurines in patients with inflammatory bowel disease (IBD) are not clearly identified. Our aim was to evaluate the predictive pharmacogenetic risk of pancreatitis in IBD patients treated with thiopurines.</p><p><strong>Methods: </strong>We conducted an observational pharmacogenetic study of acute pancreatitis events in a cohort study of IBD patients treated with thiopurines from the prospectively maintained ENEIDA registry biobank of GETECCU. Samples were obtained and the CASR, CEL, CFTR, CDLN2, CTRC, SPINK1, CPA1, and PRSS1 genes, selected based on their known association with pancreatitis, were fully sequenced.</p><p><strong>Results: </strong>Ninety-five cases and 105 controls were enrolled; a total of 57% were women. Median age at pancreatitis diagnosis was 39 years. We identified 81 benign variants (50 in cases and 67 in controls) and a total of 35 distinct rare pathogenic and unknown significance variants (10 in CEL, 21 in CFTR, 1 in CDLN2, and 3 in CPA1). None of the cases or controls carried pancreatitis-predisposing variants within the CASR, CPA1, PRSS1, and SPINK1 genes, nor a pathogenic CFTR mutation. Four different variants of unknown significance were detected in the CDLN and CPA1 genes; one of them was in the CDLN gene in a single patient with pancreatitis and 3 in the CPA1 gene in 5 controls. After the analysis of the variants detected, no significant differences were observed between cases and controls.</p><p><strong>Conclusion: </strong>In patients with IBD, genes known to cause pancreatitis seem not to be involved in thiopurine-related pancreatitis onset.</p>\",\"PeriodicalId\":11294,\"journal\":{\"name\":\"Digestive Diseases\",\"volume\":\" \",\"pages\":\"257-264\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Digestive Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000537782\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/3/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Digestive Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000537782","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/3/8 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry.
Introduction: Risk factors for developing pancreatitis due to thiopurines in patients with inflammatory bowel disease (IBD) are not clearly identified. Our aim was to evaluate the predictive pharmacogenetic risk of pancreatitis in IBD patients treated with thiopurines.
Methods: We conducted an observational pharmacogenetic study of acute pancreatitis events in a cohort study of IBD patients treated with thiopurines from the prospectively maintained ENEIDA registry biobank of GETECCU. Samples were obtained and the CASR, CEL, CFTR, CDLN2, CTRC, SPINK1, CPA1, and PRSS1 genes, selected based on their known association with pancreatitis, were fully sequenced.
Results: Ninety-five cases and 105 controls were enrolled; a total of 57% were women. Median age at pancreatitis diagnosis was 39 years. We identified 81 benign variants (50 in cases and 67 in controls) and a total of 35 distinct rare pathogenic and unknown significance variants (10 in CEL, 21 in CFTR, 1 in CDLN2, and 3 in CPA1). None of the cases or controls carried pancreatitis-predisposing variants within the CASR, CPA1, PRSS1, and SPINK1 genes, nor a pathogenic CFTR mutation. Four different variants of unknown significance were detected in the CDLN and CPA1 genes; one of them was in the CDLN gene in a single patient with pancreatitis and 3 in the CPA1 gene in 5 controls. After the analysis of the variants detected, no significant differences were observed between cases and controls.
Conclusion: In patients with IBD, genes known to cause pancreatitis seem not to be involved in thiopurine-related pancreatitis onset.
期刊介绍：
Each issue of this journal is dedicated to a special topic of current interest, covering both clinical and basic science topics in gastrointestinal function and disorders. The contents of each issue are comprehensive and reflect the state of the art, featuring editorials, reviews, mini reviews and original papers. These individual contributions encompass a variety of disciplines including all fields of gastroenterology. ''Digestive Diseases'' bridges the communication gap between advances made in the academic setting and their application in patient care. The journal is a valuable service for clinicians, specialists and physicians-in-training.
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