{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T06:02:54Z","timestamp":1785132174862,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T00:00:00Z","timestamp":1777161600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T00:00:00Z","timestamp":1777161600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000739","name":"University of Southampton","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000739","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2026,7]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n A subset of patients with inflammatory bowel disease (IBD) develop hyperamylasaemia. This study examines its causes, clinical outcomes and the impact of amylase gene copy number variation (CNV) using whole exome sequencing (WES).<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We retrospectively analysed 334 patients with paediatric IBD (\u226418 years, diagnosed 2015\u20132022) who were recruited to the Genetics of IBD Study\u2010University Hospital Southampton. Patients with amylase levels above the laboratory's reference range (102\u2009U\/L) were identified, clinically characterised and followed for \u22652 years. Amylase gene CNV was estimated and correlated with serum amylase levels. Findings were replicated in an additional cohort of 554 paediatric and adult patients.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Hyperamylasaemia was found in 62\/334 patients (18.6%), with 29% of these presenting at diagnosis. It was significantly associated with younger age at diagnosis (\n p<\/jats:italic>\n \u2009=\u20090.044), non\u2010European ethnicity (\n p<\/jats:italic>\n \u2009=\u20090.013) and body mass index (BMI)\u2009>\u200991st centile (\n p<\/jats:italic>\n \u2009=\u20090.0467). Hyperamylasaemia resolved in 77% of patients; in the majority (85%), spontaneously and in the remainder after medication withdrawal. One patient developed acute pancreatitis; another with ansa pancreatica had recurrent pancreatitis. Although\n AMY<\/jats:italic>\n mean gene read counts positively correlated with median serum amylase levels in both cohorts (Primary pIBD cohort,\n p<\/jats:italic>\n \u2009<\u20090.0001 for both\n AMY1<\/jats:italic>\n &\n AMY2<\/jats:italic>\n ; Replication cohort,\n p<\/jats:italic>\n \u2009<\u20090.0001 for\n AMY1<\/jats:italic>\n &\n p<\/jats:italic>\n \u2009=\u20090.0017 for\n AMY2<\/jats:italic>\n ), they explained <10% of the variance in amylase levels.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Hyperamylasaemia is common in pIBD, associated with younger age, non\u2010European ethnicity and higher BMI. Most cases are benign and self\u2010limiting. Our findings confirm a strong association between elevated amylase and additional copies of\n AMY<\/jats:italic>\n genes.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jpn3.70448","type":"journal-article","created":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T06:59:52Z","timestamp":1777273192000},"page":"79-86","source":"Crossref","is-referenced-by-count":0,"title":["Hyperamylasaemia in paediatric inflammatory bowel disease: Aetiology, outcomes and genetic determinants"],"prefix":"10.1002","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-2974-9292","authenticated-orcid":false,"given":"Fernando V\u00e1zquez","family":"L\u00f3pez","sequence":"first","affiliation":[{"name":"Human Genetics and Genomic Medicine University of Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranav","family":"Kesavan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology University Hospital Southampton Southampton UK"},{"name":"Human Development and Health University of Southampton, Faculty of Medicine UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn K.","family":"Win","sequence":"additional","affiliation":[{"name":"Human Genetics and Genomic Medicine University of Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Kurteva","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akshay","family":"Batra","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadeem A.","family":"Afzal","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.","family":"Beattie","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhumita","family":"Vadgama","sequence":"additional","affiliation":[{"name":"Department of Cellular Pathology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Allotey","sequence":"additional","affiliation":[{"name":"Department of Cellular Pathology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Ennis","sequence":"additional","affiliation":[{"name":"Human Genetics and Genomic Medicine University of Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Ashton","sequence":"additional","affiliation":[{"name":"Human Genetics and Genomic Medicine University of Southampton Southampton UK"},{"name":"Department of Paediatric Gastroenterology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7171-3521","authenticated-orcid":false,"given":"Tracy","family":"Coelho","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ecco-jcc\/jjad108"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2023-325668"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12134174"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001446"},{"key":"e_1_2_9_6_1","volume-title":"Hyperamylasemia","author":"Lam R","year":"2025"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.surg.2016.01.005"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-016-0794-7"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001715"},{"key":"e_1_2_9_10_1","article-title":"Serum amylase and lipase and urinary trypsinogen and amylase for diagnosis of acute pancreatitis","volume":"4","author":"Rompianesi G","year":"2017","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/ibd\/izae126"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ecco-jcc\/jjv188"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/flgastro-2020-101405"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.adn0609"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-024-07911-1"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-017-0097-3"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.2147\/DMSO.S339604"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-022-01111-3"},{"issue":"1","key":"e_1_2_9_19_1","first-page":"A175","article-title":"Recognition and response to paediatric obesity in the general outpatient population: are we missing a key opportunity","volume":"103","author":"McClean AMOK","year":"2018","journal-title":"Arch Dis Child"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-020-00761-2"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.4253\/wjge.v8.i20.777"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pan.2013.12.004"},{"issue":"4","key":"e_1_2_9_23_1","first-page":"443","article-title":"Upper gastrointestinal mucosal disease in pediatric Crohn disease and ulcerative colitis: a blinded, controlled study","volume":"32","author":"Tobin JM","year":"2001","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ibd.21493"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/ibd\/izac205"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btx364"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000002567"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-4642(17)30017-2"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.4331\/wjbc.v16.i4.109509"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1177\/1479164120945675"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.14740\/jocmr3561w"}],"container-title":["Journal of Pediatric Gastroenterology and Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpn3.70448","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jpn3.70448","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpn3.70448","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T05:57:23Z","timestamp":1785131843000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpn3.70448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,26]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/jpn3.70448"],"URL":"https:\/\/doi.org\/10.1002\/jpn3.70448","archive":["Portico"],"relation":{},"ISSN":["0277-2116","1536-4801"],"issn-type":[{"value":"0277-2116","type":"print"},{"value":"1536-4801","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,26]]}}}