{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bossini-Castillo L"],"funding":["Medical Research Council","Wellcome Trust"],"pagination":["None"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9010307"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["2(4)"],"pubmed_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<sup>+</sup> 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) signaling"],"journal":["Cell genomics"],"pubmed_title":["Immune disease variants modulate gene expression in regulatory CD4&lt;sup&gt;+&lt;/sup&gt; T cells."],"pmcid":["PMC9010307"],"funding_grant_id":["WT206194","MR/N014995/1"],"pubmed_authors":["Soranzo N","Glinos DA","Dunham I","Bossini-Castillo L","Smyth DJ","Golda G","Roberts DJ","Cattermole C","Trynka G","Alasoo K","Lorenc A","Spitzer M","Lamikanra AA","Soskic B","Kundu K","Cano-Gamez E","Mann A","Kunowska N"],"additional_accession":[]},"is_claimable":false,"name":"Immune disease variants modulate gene expression in regulatory CD4&lt;sup&gt;+&lt;/sup&gt; T cells.","description":"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<sup>+</sup> 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) signaling","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-05-09T23:37:20.09Z","creation":"2025-02-19T02:58:41.884Z"},"accession":"S-EPMC9010307","cross_references":{"pubmed":["35591976"],"doi":["10.1016/j.xgen.2022.100117"]}}