Cell-type-resolved genetic variation shapes inflammatory bowel disease risk - PubMed
2 hours ago
- #inflammatory bowel disease
- #single-cell eQTL
- #genetic risk mapping
- Genetic variants linked to IBD risk are mapped at cell-type resolution using 2.2 million single cells from intestinal biopsies and blood of 421 individuals.
- Cell-type-level eQTLs are more likely to colocalize with IBD GWAS loci and are enriched in enhancers, helping nominate effector genes like MAML2, PSEN2, and ZMIZ1.
- The study highlights reduced Notch signaling in myeloid cells and impaired Wnt-regulated epithelial renewal as key mechanisms in IBD pathogenesis.