biostudies-literatureBossini-Castillo LMedical Research CouncilWellcome TrustNonehttps://www.ebi.ac.uk/biostudies/studies/S-EPMC9010307biostudies-literatureUnknown2(4)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 <i>CD28</i> and <i>STAT5A</i>, involved in Treg cell activation and interleukin-2 (IL-2) signalingCell genomicsImmune disease variants modulate gene expression in regulatory CD4&lt;sup&gt;+&lt;/sup&gt; T cells.PMC9010307WT206194MR/N014995/1Soranzo NGlinos DADunham IBossini-Castillo LSmyth DJGolda GRoberts DJCattermole CTrynka GAlasoo KLorenc ASpitzer MLamikanra AASoskic BKundu KCano-Gamez EMann AKunowska NfalseImmune disease variants modulate gene expression in regulatory CD4&lt;sup&gt;+&lt;/sup&gt; T cells.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 <i>CD28</i> and <i>STAT5A</i>, involved in Treg cell activation and interleukin-2 (IL-2) signaling2022-01-01T00:00:00Z2022 Apr2026-05-09T23:37:20.09Z2025-02-19T02:58:41.884ZS-EPMC90103073559197610.1016/j.xgen.2022.100117