학술논문
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
Document Type
article
Author
Eva Gonçalves Serra; Tobias Schwerd; Loukas Moutsianas; Athena Cavounidis; Laura Fachal; Sumeet Pandey; Jochen Kammermeier; Nicholas M. Croft; Carsten Posovszky; Astor Rodrigues; Richard K. Russell; Farah Barakat; Marcus K. H. Auth; Robert Heuschkel; Matthias Zilbauer; Krzysztof Fyderek; Christian Braegger; Simon P. Travis; Jack Satsangi; Miles Parkes; Nikhil Thapar; Helen Ferry; Julie C. Matte; Kimberly C. Gilmour; Andrzej Wedrychowicz; Peter Sullivan; Carmel Moore; Jennifer Sambrook; Willem Ouwehand; David Roberts; John Danesh; Toni A. Baeumler; Tudor A. Fulga; Mohammad Karaminejadranjbar; Ahmed Ahmed; Rachel Wilson; Jeffrey C. Barrett; Abdul Elkadri; Anne M. Griffiths; COLORS in IBD group investigators; Oxford IBD cohort study investigators; INTERVAL Study; Swiss IBD cohort investigators; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium; Scott B. Snapper; Neil Shah; Aleixo M. Muise; David C. Wilson; Holm H. Uhlig; Carl A. Anderson
Source
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Subject
Language
English
ISSN
2041-1723
Abstract
Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.