Immune disease variants modulate gene expression in regulatory CD4⁺ T cells.

ABSTRACT: Identifying cellular functions dysregulated by disease-associated variants could implicate novel pathways for drug targeting or modulation in cell therapies. However, follow-up studies can be challenging if disease-relevant cell types are difficult to sample. Variants associated with immune diseases point toward the role of CD4⁺ regulatory T cells (Treg cells). We mapped genetic regulation (quantitative trait loci [QTL]) of gene expression and chromatin activity in Treg cells, and we identified 133 colocalizing loci with immune disease variants. Colocalizations of immune disease genome-wide association study (GWAS) variants with expression QTLs (eQTLs) controlling the expression of CD28 and STAT5A, involved in Treg cell activation and interleukin-2 (IL-2) signaling

SUBMITTER: Bossini-Castillo L 

PROVIDER: S-EPMC9010307 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature