{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dirvanskyte P"],"funding":["Leona M. and Harry B. Helmsley Charitable Trust","Cancer Research UK","National Institute of Diabetes and Digestive and Kidney Diseases","National Institutes of Health","Oxford Biomedical Research Centre","Canadian Institutes of Health Research","CIHR","NIDDK NIH HHS","Medical Research Council","National Institute for Health Research (NIHR)","Wellcome Trust","National Health Service England","NIH HHS"],"pagination":["49-60"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9880952"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(1)"],"pubmed_abstract":["<h4>Background and aims</h4>Inflammatory bowel diseases [IBD] have a complex polygenic aetiology. Rare genetic variants can cause monogenic intestinal inflammation. The impact of chromosomal aberrations and large structural abnormalities on IBD susceptibility is not clear. We aimed to comprehensively characterise the phenotype and prevalence of patients with IBD who possess rare numerical and structural chromosomal abnormalities.<h4>Methods</h4>We performed a systematic literature search of databases PubMed and Embase; and analysed gnomAD, Clinvar, the 100 000 Genomes Project, and DECIPHER databases. Further, we analysed international paediatric IBD cohorts to investigate the role of IL2RA duplications in IBD susceptibility.<h4>Results</h4>A meta-analysis suggests that monosomy X [Turner s"],"journal":["Journal of Crohn's & colitis"],"pubmed_title":["Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease."],"pmcid":["PMC9880952"],"funding_grant_id":["207556/Z/17/Z","RC2DK118640","RC2 DK122532","RC2DK122532","ACF-2020-18-006","MR/R008019/1"],"pubmed_authors":["Dirvanskyte P","Uhlig HH","Keller KM","Warner N","Gilmour KC","Wysocki C","Griffin HR","Hambleton S","Bolton C","Gurram B","Park JY","Muise AM","Genomics England Research Consortium","Jones KDJ"],"additional_accession":[]},"is_claimable":false,"name":"Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.","description":"<h4>Background and aims</h4>Inflammatory bowel diseases [IBD] have a complex polygenic aetiology. Rare genetic variants can cause monogenic intestinal inflammation. The impact of chromosomal aberrations and large structural abnormalities on IBD susceptibility is not clear. We aimed to comprehensively characterise the phenotype and prevalence of patients with IBD who possess rare numerical and structural chromosomal abnormalities.<h4>Methods</h4>We performed a systematic literature search of databases PubMed and Embase; and analysed gnomAD, Clinvar, the 100 000 Genomes Project, and DECIPHER databases. Further, we analysed international paediatric IBD cohorts to investigate the role of IL2RA duplications in IBD susceptibility.<h4>Results</h4>A meta-analysis suggests that monosomy X [Turner s","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-03-17T15:48:49.193Z","creation":"2025-04-19T17:57:19.646Z"},"accession":"S-EPMC9880952","cross_references":{"pubmed":["35907265"],"doi":["10.1093/ecco-jcc/jjac103"]}}