{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:04:27Z","timestamp":1789639467274,"version":"4.0.0"},"reference-count":97,"publisher":"Oxford University Press (OUP)","issue":"Supplement_2","license":[{"start":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:00:00Z","timestamp":1758326400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["U01-DK134191"],"award-info":[{"award-number":["U01-DK134191"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>This review appraises the current genetic and genomic knowledge in inflammatory bowel disease (IBD) with regard to diagnosis, therapy, and medicine for ulcerative colitis and Crohn\u2019s disease. The results of numerous genetic and genome-wide association studies leave no doubts that IBD has an undeniable and biologically relevant genetic component, deeply rooted in the patient individual genetic makeup. Decades of research have firmly established that numerous genetic loci are linked to IBD, making the individuals who inherit them significantly more susceptible to developing ulcerative colitis or Crohn\u2019s disease. IBD genetics are very heterogeneous and variable when considering natural history, clinical features, age of onset, and the discrete subgroups that are affected. The review interrogates the risk for IBD and highlights some opportunities that may lead to the future possibility of preventing IBD. If strategies for prevention, early detection, early intervention, or even avoidance are to be developed, the obvious genetic underpinnings of IBD cannot be ignored.<\/jats:p>","DOI":"10.1093\/ibd\/izaf206","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T08:19:26Z","timestamp":1760343566000},"page":"S3-S13","source":"Crossref","is-referenced-by-count":4,"title":["Towards IBD Prediction and Prevention: The Contribution of Genetics and Genomics"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7337-2257","authenticated-orcid":false,"given":"Subra","family":"Kugathasan","sequence":"first","affiliation":[{"name":"Division of Pediatric Gastroenterology, Emory University School of Medicine , Atlanta, GA,","place":["United States"]},{"name":"Emory + Children\u2019s Pediatric Institute , Atlanta, GA,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Fiocchi","sequence":"additional","affiliation":[{"name":"Department of Inflammation and Immunity, Lerner Research Institute, Cleveland Clinic , OH,","place":["United States"]},{"name":"Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease Institute, Cleveland Clinic , OH,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,9,20]]},"reference":[{"key":"2025101304192079200_izaf206-B1","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1093\/ibd\/izae269","article-title":"Eleven grand challenges for inflammatory bowel disease genetics and genomics","volume":"31","author":"Gibson","year":"2025","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B2","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/nrgastro.2015.34","article-title":"Epidemiology and risk factors for IBD","volume":"12","author":"Ananthakrishnan","year":"2015","journal-title":"Nat Rev Gastroenterol Hepatol"},{"key":"2025101304192079200_izaf206-B3","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1053\/j.gastro.2015.08.001","article-title":"Genetics of inflammatory bowel diseases","volume":"149","author":"McGovern","year":"2015","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B4","doi-asserted-by":"crossref","first-page":"14912","DOI":"10.3390\/ijms241914912","article-title":"Omics and multi-omics in IBD: no integration, no breakthroughs","volume":"24","author":"Fiocchi","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2025101304192079200_izaf206-B5","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1017\/pcm.2023.21","article-title":"Delivery of precision medicine\u2014Cambridge prisms: precision medicine webinar event transcript","volume":"1","author":"Pirmohamed","year":"2023","journal-title":"Camb Prism Precis Med."},{"key":"2025101304192079200_izaf206-B6","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1097\/MPG.0000000000003017","article-title":"Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease","volume":"72","author":"Uhlig","year":"2021","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025101304192079200_izaf206-B7","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/nature11582","article-title":"Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease","volume":"491","author":"Jostins","year":"2012","journal-title":"Nature"},{"key":"2025101304192079200_izaf206-B8","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1038\/ng.3359","article-title":"Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations","volume":"47","author":"Liu","year":"2015","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B9","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1038\/nbt.2696","article-title":"Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing","volume":"31","author":"Frampton","year":"2013","journal-title":"Nat Biotechnol"},{"key":"2025101304192079200_izaf206-B10","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1016\/j.cell.2024.02.041","article-title":"Cancer biomarkers: emerging trends and clinical implications for personalized treatment","volume":"187","author":"Passaro","year":"2024","journal-title":"Cell"},{"key":"2025101304192079200_izaf206-B11","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1038\/ng.3663","article-title":"The effect of host genetics on the gut microbiome","volume":"48","author":"Bonder","year":"2016","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B12","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1136\/gutjnl-2015-310376","article-title":"Proton pump inhibitors affect the gut microbiome","volume":"65","author":"Imhann","year":"2016","journal-title":"Gut"},{"key":"2025101304192079200_izaf206-B13","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1038\/s41395-018-0246-x","article-title":"Refocusing IBD patient management: personalized, proactive, and patient-centered care","volume":"113","author":"Siegel","year":"2018","journal-title":"Am J Gastroenterol"},{"key":"2025101304192079200_izaf206-B14","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/ajg.2013.464","article-title":"Differential effect of genetic burden on disease phenotypes in Crohn\u2019s disease and ulcerative colitis: analysis of a North American cohort","volume":"109","author":"Ananthakrishnan","year":"2014","journal-title":"Am J Gastroenterol"},{"key":"2025101304192079200_izaf206-B15","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1056\/NEJM198703193161202","article-title":"Risk of ulcerative colitis among former and current cigarette smokers","volume":"316","author":"Boyko","year":"1987","journal-title":"N Engl J Med"},{"key":"2025101304192079200_izaf206-B16","doi-asserted-by":"crossref","first-page":"5A","DOI":"10.1155\/2005\/269076","article-title":"Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology","volume":"19","author":"Silverberg","year":"2005","journal-title":"Can J Gastroenterol"},{"key":"2025101304192079200_izaf206-B17","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1086\/339432","article-title":"CARD15\/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease","volume":"70","author":"Lesage","year":"2002","journal-title":"Am J Hum Genet"},{"key":"2025101304192079200_izaf206-B18","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/S0140-6736(15)00465-1","article-title":"Inherited determinants of Crohn\u2019s disease and ulcerative colitis phenotypes: a genetic association study","volume":"387","author":"Cleynen","year":"2016","journal-title":"Lancet"},{"key":"2025101304192079200_izaf206-B19","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1053\/j.gastro.2013.09.048","article-title":"Genetic variants synthesize to produce paneth cell phenotypes that define subtypes of Crohn\u2019s disease","volume":"146","author":"VanDussen","year":"2014","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B20","doi-asserted-by":"crossref","first-page":"eaai7795","DOI":"10.1126\/scitranslmed.aai7795","article-title":"Functional variants in the LRRK2 gene confer shared effects on risk for Crohn\u2019s disease and Parkinson\u2019s disease","volume":"10","author":"Hui","year":"2018","journal-title":"Sci Transl Med"},{"key":"2025101304192079200_izaf206-B21","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1038\/ni.3233","article-title":"Commensal bacteria direct selective cargo sorting to promote symbiosis","volume":"16","author":"Zhang","year":"2015","journal-title":"Nat Immunol"},{"key":"2025101304192079200_izaf206-B22","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1136\/gutjnl-2016-312518","article-title":"Molecular classification of Crohn\u2019s disease reveals two clinically relevant subtypes","volume":"67","author":"Weiser","year":"2018","journal-title":"Gut"},{"key":"2025101304192079200_izaf206-B23","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1053\/j.gastro.2013.12.003","article-title":"Many inflammatory bowel disease risk loci include regions that regulate gene expression in immune cells and the intestinal epithelium","volume":"146","author":"Mokry","year":"2014","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B24","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1046\/j.1399-0039.2003.00129.x","article-title":"The contribution of human leucocyte antigen complex genes to disease phenotype in ulcerative colitis","volume":"62","author":"Ahmad","year":"2003","journal-title":"Tissue Antigens"},{"key":"2025101304192079200_izaf206-B25","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/ng.3176","article-title":"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","volume":"47","author":"Goyette","year":"2015","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B26","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1002\/ibd.21293","article-title":"Genetic predictors of medically refractory ulcerative colitis","volume":"16","author":"Talin","year":"2010","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B27","doi-asserted-by":"crossref","first-page":"2794","DOI":"10.1097\/MIB.0000000000000966","article-title":"Genetic risk for inflammatory bowel disease is a determinant of Crohn\u2019s disease development in chronic granulomatous disease","volume":"22","author":"Chengrui","year":"2016","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B28","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1053\/j.gastro.2016.09.032","article-title":"Genome-wide association study identifies African-specific susceptibility loci in African Americans with inflammatory bowel disease","volume":"152","author":"Brant","year":"2017","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B29","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1111\/j.1440-1746.2010.06533.x","article-title":"Common variants in NOD2 and IL23R are not associated with inflammatory bowel disease in Indians","volume":"26","author":"Mahurkar","year":"2011","journal-title":"J Gastroenterol Hepatol"},{"key":"2025101304192079200_izaf206-B30","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1053\/gast.2002.34155","article-title":"Lack of common NOD2 variants in Japanese patients with Crohn\u2019s disease","volume":"123","author":"Inoue","year":"2002","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B31","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1002\/ibd.22944","article-title":"Common NOD2 risk variants in African Americans with Crohn\u2019s disease are due exclusively to recent Caucasian admixture","volume":"18","author":"Adeyanju","year":"2012","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B32","doi-asserted-by":"crossref","first-page":"3499","DOI":"10.1093\/hmg\/ddi379","article-title":"Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn\u2019s disease","volume":"14","author":"Yamazaki","year":"2005","journal-title":"Hum Mol Genet"},{"key":"2025101304192079200_izaf206-B33","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1136\/gutjnl-2013-305193","article-title":"Genome-wide association study of Crohn\u2019s disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations","volume":"63","author":"Yang","year":"2014","journal-title":"Gut"},{"key":"2025101304192079200_izaf206-B34","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1002\/ibd.20921","article-title":"Contribution of IL23R but not ATG16L1 to Crohn\u2019s disease susceptibility in Koreans","volume":"15","author":"Yang","year":"2009","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B35","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1053\/j.gastro.2016.06.045","article-title":"A Frameshift in CSF2RB Predominant among Ashkenazi Jews increases risk for Crohn\u2019s disease and reduces monocyte signaling via GM-CSF","volume":"151","author":"Chuang","year":"2016","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B36","doi-asserted-by":"crossref","first-page":"e1007329","DOI":"10.1371\/journal.pgen.1007329","article-title":"Insights into the genetic epidemiology of Crohn\u2019s and rare diseases in the Ashkenazi Jewish population","volume":"14","author":"Rivas","year":"2018","journal-title":"PLoS Genetics"},{"key":"2025101304192079200_izaf206-B37","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1016\/S0140-6736(17)30317-3","article-title":"Prediction of complicated disease course for children newly diagnosed with Crohn\u2019s disease: a multicentre inception cohort study","volume":"389","author":"Kugathasan","year":"2017","journal-title":"Lancet"},{"key":"2025101304192079200_izaf206-B38","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1097\/MIB.0000000000000705","article-title":"Perianal Crohn\u2019s disease is associated with distal colonic disease, stricturing disease behavior, IBD-Associated serologies and genetic variation in the JAK-STAT pathway","volume":"22","author":"Kaur","year":"2016","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B39","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/j.crohns.2014.04.002","article-title":"TNFSF15 is an independent predictor for the development of Crohn\u2019s disease-related complications in Koreans","volume":"8","author":"Yang","year":"2014","journal-title":"J Crohns Colitis"},{"key":"2025101304192079200_izaf206-B40","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1097\/MIB.0000000000000325","article-title":"Racial disparities in readmission, complications, and procedures in children with Crohn\u2019s disease","volume":"21","author":"Dotson","year":"2015","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B41","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/s41385-018-0114-4","article-title":"Age-of-diagnosis dependent ileal immune intensification and reduced alpha-defensin in older versus younger pediatric Crohn Disease patients despite already established dysbiosis","volume":"12","author":"Haberman","year":"2019","journal-title":"Mucosal Immunol"},{"key":"2025101304192079200_izaf206-B42","doi-asserted-by":"crossref","first-page":"2413","DOI":"10.1093\/ibd\/izy148","article-title":"Late-Onset Crohn\u2019s disease is a subgroup distinct in genetic and behavioral risk factors with UC-Like characteristics","volume":"24","author":"Li","year":"2018","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B43","doi-asserted-by":"crossref","first-page":"3073","DOI":"10.1093\/hmg\/dds135","article-title":"Cigarette smoking behaviors and time since quitting are associated with differential DNA methylation across the human genome","volume":"21","author":"Wan","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2025101304192079200_izaf206-B44","first-page":"4611","article-title":"A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking","volume":"25","author":"Huan","year":"2016","journal-title":"Hum Mol Genet"},{"key":"2025101304192079200_izaf206-B45","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/40894","article-title":"Expression cloning of new receptors used by simian and human immunodeficiency viruses","volume":"388","author":"Deng","year":"1997","journal-title":"Nature"},{"key":"2025101304192079200_izaf206-B46","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1126\/science.1237013","article-title":"GPR15-mediated homing controls immune homeostasis in the large intestine mucosa","volume":"340","author":"Kim","year":"2013","journal-title":"Science"},{"key":"2025101304192079200_izaf206-B47","doi-asserted-by":"crossref","first-page":"e90585","DOI":"10.1172\/jci.insight.90585","article-title":"Differential expression of GPR15 on T cells during ulcerative colitis","volume":"2","author":"Adamczyk","year":"2017","journal-title":"JCI Insight"},{"key":"2025101304192079200_izaf206-B48","doi-asserted-by":"crossref","first-page":"5110","DOI":"10.1172\/JCI120453","article-title":"Interaction between smoking and ATG16L1T300A triggers Paneth cell defects in Crohn\u2019s disease","volume":"128","author":"Liu","year":"2018","journal-title":"J Clin Invest"},{"key":"2025101304192079200_izaf206-B49","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/ajg.2011.19","article-title":"The prognostic power of the NOD2 genotype for complicated Crohn\u2019s disease: a meta-analysis","volume":"106","author":"Adler","year":"2011","journal-title":"Am J Gastroenterol"},{"key":"2025101304192079200_izaf206-B50","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1097\/MIB.0b013e3182813391","article-title":"The effect of NOD2 polymorphism on postsurgical recurrence in Crohn\u2019s disease: a systematic review and meta-analysis of available literature","volume":"19","author":"Solon","year":"2013","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B51","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1038\/ng.3936","article-title":"Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn\u2019s disease","volume":"49","author":"Marigorta","year":"2017","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B52","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1053\/j.gastro.2017.04.002","article-title":"Association of ribonuclease T2 gene polymorphisms with decreased expression and clinical characteristics of severity in Crohn\u2019s disease","volume":"153","author":"Gonsky","year":"2017","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B53","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1016\/j.ajhg.2021.07.013","article-title":"Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression","volume":"108","author":"Mo","year":"2021","journal-title":"Am J Hum Genet"},{"key":"2025101304192079200_izaf206-B54","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1053\/j.gastro.2017.01.016","article-title":"Mucosal expression of Type 2 and Type 17 immune response genes distinguishes ulcerative colitis from colon-only Crohn\u2019s disease in treatment-naive pediatric patients","volume":"152","author":"Rosen","year":"2017","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B55","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ng.3528","article-title":"Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci","volume":"48","author":"Ellinghaus","year":"2016","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B56","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/j.cgh.2018.05.004","article-title":"Analysis of DNA methylation at specific loci in stool samples detects colorectal cancer and high-grade dysplasia in patients with inflammatory bowel disease","volume":"17","author":"Kisiel","year":"2019","journal-title":"Clin Gastroenterol Hepatol"},{"key":"2025101304192079200_izaf206-B57","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/ng.3656","article-title":"Next-generation genotype imputation service and methods","volume":"48","author":"Das","year":"2016","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B58","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1038\/ng.3679","article-title":"Reference-based phasing using the Haplotype Reference Consortium panel","volume":"48","author":"Loh","year":"2016","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B59","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/nrg2796","article-title":"Genotype imputation for genome-wide association studies","volume":"11","author":"Marchini","year":"2010","journal-title":"Nat Rev Genet"},{"key":"2025101304192079200_izaf206-B60","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1097\/GIM.0b013e3182088158","article-title":"Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease","volume":"13","author":"Worthey","year":"2011","journal-title":"Genetics in Medicine"},{"key":"2025101304192079200_izaf206-B61","doi-asserted-by":"crossref","first-page":"e2326445","DOI":"10.1001\/jamanetworkopen.2023.26445","article-title":"At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children","volume":"6","author":"Balciuniene","year":"2023","journal-title":"JAMA Netw Open"},{"key":"2025101304192079200_izaf206-B62","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/s41588-018-0183-z","article-title":"Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations","volume":"50","author":"Khera","year":"2018","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B63","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1053\/j.gastro.2020.12.034","article-title":"Common and Rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort","volume":"160","author":"Gettler","year":"2021","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B64","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1056\/NEJMoa1902226","article-title":"An Anti-CD3 antibody, teplizumab, in relatives at risk for type 1 diabetes","volume":"381","author":"Herold","year":"2019","journal-title":"N Engl J Med"},{"key":"2025101304192079200_izaf206-B65","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1136\/annrheumdis-2017-212763","article-title":"Effects of B-cell directed therapy on the preclinical stage of rheumatoid arthritis: the PRAIRI study","volume":"78","author":"Gerlag","year":"2019","journal-title":"Ann Rheum Dis"},{"key":"2025101304192079200_izaf206-B66","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1038\/s41591-020-0930-4","article-title":"A combined risk score enhances prediction of type 1 diabetes among susceptible children","volume":"26","author":"Ferrat","year":"2020","journal-title":"Nat Med"},{"key":"2025101304192079200_izaf206-B67","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1016\/j.cgh.2021.03.021","article-title":"A systematic review of monogenic inflammatory bowel disease","volume":"20","author":"Nambu","year":"2022","journal-title":"Clin Gastroenterol Hepatol"},{"key":"2025101304192079200_izaf206-B68","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1056\/NEJMoa0907206","article-title":"Inflammatory bowel disease and mutations affecting the interleukin-10 receptor","volume":"361","author":"Glocker","year":"2009","journal-title":"N Engl J Med"},{"key":"2025101304192079200_izaf206-B69","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1097\/MIB.0000000000000614","article-title":"From genes to mechanisms: the expanding spectrum of monogenic disorders associated with inflammatory bowel disease","volume":"22","author":"Uhlig","year":"2016","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B70","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1053\/j.gastro.2012.04.045","article-title":"Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy","volume":"143","author":"Kotlarz","year":"2012","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B71","first-page":"1235","article-title":"Interleukin-10 receptor mutations in children with neonatal-onset Crohn\u2019s disease and intractable ulcerating enterocolitis","volume":"25","author":"Shim","year":"2013","journal-title":"Eur J Gastroenterol Hepatol"},{"key":"2025101304192079200_izaf206-B72","doi-asserted-by":"crossref","first-page":"4447","DOI":"10.1038\/s41467-018-06964-x","article-title":"A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease","volume":"9","author":"Arnadottir","year":"2018","journal-title":"Nat Commun"},{"key":"2025101304192079200_izaf206-B73","doi-asserted-by":"crossref","first-page":"3309","DOI":"10.1182\/blood-2009-07-231498","article-title":"A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity","volume":"114","author":"Matute","year":"2009","journal-title":"Blood"},{"key":"2025101304192079200_izaf206-B74","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1053\/j.gastro.2018.02.016","article-title":"Clinical and genomic correlates of neutrophil reactive oxygen species production in pediatric patients with Crohn\u2019s disease","volume":"154","author":"Denson","year":"2018","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B75","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/ng1954","article-title":"A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1","volume":"39","author":"Hampe","year":"2007","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B76","doi-asserted-by":"crossref","first-page":"e58","DOI":"10.1371\/journal.pgen.0030058","article-title":"Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4","volume":"3","author":"Libioulle","year":"2007","journal-title":"PLoS Genet"},{"key":"2025101304192079200_izaf206-B77","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1053\/j.gastro.2017.03.049","article-title":"Efficacy and safety of MEDI2070, an antibody against interleukin 23, in patients with moderate to severe Crohn\u2019s disease: a phase 2a study","volume":"153","author":"Sands","year":"2017","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B78","doi-asserted-by":"crossref","first-page":"12342","DOI":"10.1038\/ncomms12342","article-title":"A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis","volume":"7","author":"Rivas","year":"2016","journal-title":"Nat Commun"},{"key":"2025101304192079200_izaf206-B79","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/ajg.2011.27","article-title":"Mucosal gene expression of cell adhesion molecules, chemokines, and chemokine receptors in patients with inflammatory bowel disease before and after infliximab treatment","volume":"106","author":"Arijs","year":"2011","journal-title":"Am J Gastroenterol"},{"key":"2025101304192079200_izaf206-B80","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nature24676","article-title":"IL-11 is a crucial determinant of cardiovascular fibrosis","volume":"552","author":"Schafer","year":"2017","journal-title":"Nature"},{"key":"2025101304192079200_izaf206-B81","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1038\/nm0617-788d","article-title":"Oncostatin M drives intestinal inflammation and predicts response to tumor necrosis factor\u2013neutralizing therapy in patients with inflammatory bowel disease","volume":"23","author":"West","year":"2017","journal-title":"Nat Med"},{"key":"2025101304192079200_izaf206-B82","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.cell.2018.01.015","article-title":"Circuit design features of a stable two-cell system","volume":"172","author":"Zhou","year":"2018","journal-title":"Cell"},{"key":"2025101304192079200_izaf206-B83","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1093\/ecco-jcc\/jjz021","article-title":"Ileal gene expression data from Crohn\u2019s disease small bowel resections indicate distinct clinical subgroups","volume":"13","author":"Potdar","year":"2019","journal-title":"J Crohns Colitis"},{"key":"2025101304192079200_izaf206-B84","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1016\/j.cell.2019.08.008","article-title":"Single-cell analysis of Crohn\u2019s disease lesions identifies a pathogenic cellular module associated with resistance to anti-TNF therapy","volume":"178","author":"Martin","year":"2019","journal-title":"Cell"},{"key":"2025101304192079200_izaf206-B85","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1097\/MIB.0000000000001150","article-title":"Colonic phenotypes are associated with poorer response to Anti-TNF therapies in patients with IBD","volume":"23","author":"Yoon","year":"2017","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B86","doi-asserted-by":"crossref","first-page":"1840","DOI":"10.1093\/ibd\/izy083","article-title":"Genetic markers predict primary nonresponse and durable response to anti-tumor necrosis factor therapy in ulcerative colitis","volume":"24","author":"Burke","year":"2018","journal-title":"Inflamm Bowel Dis"},{"key":"2025101304192079200_izaf206-B87","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1053\/j.gastro.2019.09.041","article-title":"HLA-DQA1*05 Carriage associated with development of anti-drug antibodies to infliximab and adalimumab in patients with Crohn\u2019s disease","volume":"158","author":"Sazonovs","year":"2020","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B88","doi-asserted-by":"crossref","first-page":"1946","DOI":"10.1056\/NEJMoa1602773","article-title":"Ustekinumab as induction and maintenance therapy for Crohn\u2019s disease","volume":"375","author":"Feagan","year":"2016","journal-title":"N Engl J Med"},{"key":"2025101304192079200_izaf206-B89","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1136\/annrheumdis-2020-217927","article-title":"Paradoxical gastrointestinal effects of interleukin-17 blockers","volume":"79","author":"Fauny","year":"2020","journal-title":"Ann Rheum Dis"},{"key":"2025101304192079200_izaf206-B90","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng.3760","article-title":"Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease","volume":"49","author":"de Lange","year":"2017","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B91","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1056\/NEJMoa1905725","article-title":"Vedolizumab versus adalimumab for Moderate-to-Severe ulcerative colitis","volume":"381","author":"Sands","year":"2019","journal-title":"N Engl J Med"},{"key":"2025101304192079200_izaf206-B92","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1016\/S0140-6736(18)32592-3","article-title":"Clinical and biological predictors of response to standardised paediatric colitis therapy: a multicentre inception cohort study","volume":"393","author":"Jeffrey","year":"2019","journal-title":"Lancet"},{"key":"2025101304192079200_izaf206-B93","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.jaci.2012.09.025","article-title":"Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation","volume":"131","author":"Engelhardt","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"2025101304192079200_izaf206-B94","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1097\/MPG.0000000000000302","article-title":"Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease","volume":"58","author":"Okou","year":"2014","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025101304192079200_izaf206-B95","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1038\/ng.3089","article-title":"An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome","volume":"46","author":"Canna","year":"2014","journal-title":"Nat Genet"},{"key":"2025101304192079200_izaf206-B96","doi-asserted-by":"crossref","first-page":"2254","DOI":"10.1053\/j.gastro.2019.01.270","article-title":"Blood-derived DNA methylation signatures of Crohn\u2019s disease and severity of intestinal inflammation","volume":"156","author":"Somineni","year":"2019","journal-title":"Gastroenterology"},{"key":"2025101304192079200_izaf206-B97","doi-asserted-by":"crossref","first-page":"2349","DOI":"10.1111\/dom.13817","article-title":"Type 2 diabetes treatment and outcomes worldwide: a short review of the DISCOVER study programme","volume":"21","author":"Khunti","year":"2019","journal-title":"Diabetes Obes Metab"}],"container-title":["Inflammatory Bowel Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ibdjournal\/article-pdf\/31\/Supplement_2\/S3\/64655770\/izaf206.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ibdjournal\/article-pdf\/31\/Supplement_2\/S3\/64655770\/izaf206.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T08:19:39Z","timestamp":1760343579000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ibdjournal\/article\/31\/Supplement_2\/S3\/8284738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,20]]},"references-count":97,"journal-issue":{"issue":"Supplement_2","published-online":{"date-parts":[[2025,9,20]]},"published-print":{"date-parts":[[2025,10,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ibd\/izaf206","relation":{},"ISSN":["1078-0998","1536-4844"],"issn-type":[{"value":"1078-0998","type":"print"},{"value":"1536-4844","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,10]]},"published":{"date-parts":[[2025,9,20]]}}}