Open AccessPathway paradigms revealed from the genetics of inflammatory bowel disease
Author(s) -
Daniel B. Graham,
Ramnik J. Xavier
Publication year - 2020
Publication title -
nature
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 15.993
H-Index - 1226
eISSN - 1476-4687
pISSN - 0028-0836
DOI - 10.1038/s41586-020-2025-2
Subject(s) - inflammatory bowel disease , disease , context (archaeology) , biology , immune system , genomics , functional genomics , computational biology , microbiome , genetics , bioinformatics , genome , medicine , gene , pathology , paleontology
Inflammatory bowel disease (IBD) is a complex genetic disease that is instigated and amplified by the confluence of multiple genetic and environmental variables that perturb the immune-microbiome axis. The challenge of dissecting pathological mechanisms underlying IBD has led to the development of transformative approaches in human genetics and functional genomics. Here we describe IBD as a model disease in the context of leveraging human genetics to dissect interactions in cellular and molecular pathways that regulate homeostasis of the mucosal immune system. Finally, we synthesize emerging insights from multiple experimental approaches into pathway paradigms and discuss future prospects for disease-subtype classification and therapeutic intervention.