Tag

Eqtl

All articles tagged with #eqtl

science1 month ago•106 min saved

Lung-resident immune cells reveal hidden genetic drivers of autoimmune and lung diseases

A large single-cell eQTL study across 29 lung immune cell subsets from 120 individuals links disease-risk variants to gene expression in tissue-resident immune cells, revealing cell-type–specific regulatory mechanisms for autoimmune diseases and COPD. The researchers identify thousands of eGenes, with hundreds showing colocalization to GWAS signals; COPD heritability is estimated at 15–20% mediated by lung-immune-cell expression, and genes like IRF5, IFITM3, and ZNF683 illustrate how regulatory variants shape immune responses in the lung. Many signals are not detected in blood-based eQTL datasets, highlighting the value of studying tissue-resident cells.

via nature.com|

#copd #eqtl #lung

science3 months ago•78 min saved

Single-cell atlas links IBD risk to cell-type specific gene regulation

Researchers built IBDverse, the largest single-cell eQTL atlas for inflammatory bowel disease, mapping cis-eQTL effects across blood and gut tissues in about 400 individuals to link genetic risk to specific cell types. They find cell-type eQTLs are more distal, enhancer-rich, and far more likely to colocalize with IBD GWAS signals than bulk-tissue eQTLs, nominating effector genes such as MAML2 and ZMIZ1 in dendritic cells and MYC and RASGRP1 in colonocytes. Notch pathway regulators in dendritic cells and Wnt-driven epithelial renewal in colonocytes emerge as key mechanisms, tying regulatory variation to barrier dysfunction and inflammation. The study also highlights therapeutic angles—including PRKCB inhibitors and targets like ITGA4/JAK2—and provides a framework for interpreting GWAS loci via cell-type–resolved eQTL mapping in complex diseases.

via Nature|

#eqtl #gwas #ibd