1175-Cell-Type Resolution of Genetic Variation in IBD Risk

This study introduces IBDverse, the largest single-cell transcriptomic atlas to date focused on inflammatory bowel disease (IBD). By analyzing 2.2 million cells from the blood and intestinal biopsies of 421 participants, researchers mapped genetic variants that regulate gene expression across various cellular resolutions. Their findings demonstrate that cell-type-specific eQTLs are far more effective at identifying disease-driving genes than traditional bulk tissue analyses. Specifically, the research nominates effector genes for over half of known IBD risk loci, revealing how dysregulated Notch and Wnt signaling pathways impair immune function and epithelial repair. This comprehensive map provides a foundational framework for prioritizing drug targets and understanding the precise cellular contexts of complex genetic diseases.

References:

• Alegbe T, Harris B T, Fachal L, et al. Cell-type-resolved genetic variation shapes inflammatory bowel disease risk[J]. Nature, 2026: 1-11.