Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis.
Updated August 30, 2022Genome-wide association studies (GWAS) have revealed risk alleles for ulcerative colitis (UC). To understand their cell type specificities and pathways of action, we generate an atlas of 366,650 cells from the colon mucosa of 18 UC patients and 12 healthy individuals, revealing 51 epithelial, stromal, and immune cell subsets, including BEST4<sup>+</sup> enterocytes, microfold-like cells, and IL13RA2<sup>+</sup>IL11<sup>+</sup> inflammatory fibroblasts, which we associate with resistance to anti-TNF treatment. Inflammatory fibroblasts, inflammatory monocytes, microfold-like cells, and T cells that co-express CD8 and IL-17 expand with disease, forming intercellular interaction hubs. Many UC risk genes are cell type specific and co-regulated within relatively few gene modules, suggesting convergence onto limited sets of cell types and pathways. Using this observation, we nominate and infer functions for specific risk genes across GWAS loci. Our work provides a framework for interrogating complex human diseases and mapping risk variants to cell types and pathways.
Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis. (Official HCA Publication)
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Analysis Portals
Project Label
HumanColonRewiringUlcerativeColitisSpecies
Sample Type
Anatomical Entity
Organ Part
Selected Cell Types
Disease Status (Specimen)
Disease Status (Donor)
Development Stage
Library Construction Method
Nucleic Acid Source
Paired End
falseAnalysis Protocol
PCA_protocol, batch_correction_protocol, count_matrix_protocol, normalization_protocol, tSNE_protocolFile Format
Cell Count Estimate
366.6kDonor Count
30