{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mouri K"],"funding":["Howard Hughes Medical Institute","NIAID NIH HHS","NHGRI NIH HHS","NINDS NIH HHS","NIAMS NIH HHS"],"pagination":["603-612"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9793778"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["54(5)"],"pubmed_abstract":["Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune disease-associated loci; however, the causal genetic variants within each locus are mostly unknown. Here, we perform high-throughput allele-specific reporter assays to prioritize disease-associated variants for five autoimmune diseases. By examining variants that both promote allele-specific reporter expression and are located in accessible chromatin, we identify 60 putatively causal variants that enrich for statistically fine-mapped variants by up to 57.8-fold. We introduced the risk allele of a prioritized variant (rs72928038) into a human T cell line and deleted the orthologous sequence in mice, both resulting in reduced BACH2 expression. Naive CD8 T cells from mice containing the deletion had reduced expressi"],"journal":["Nature genetics"],"pubmed_title":["Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells."],"pmcid":["PMC9793778"],"funding_grant_id":["R01 AI151051","K99 HG009920","U01 AI142756","DP2 AI183504","K22 AI153648","P50 HG006193","R35 HG011329","T32 AR007108","F32 AI129249","R25 NS065745","R01 HG008131","R00 HG008179","UM1 HG009435","R01 AI124693","RM1 HG009490"],"pubmed_authors":["Gentili M","Ray JP","Lissner MM","DeBerg HA","Guo MH","de Boer CG","Platt WF","Campbell DJ","Hacohen N","Mouri K","Tewhey R","Liu DR","Newby GA","Harten IA"],"additional_accession":[]},"is_claimable":false,"name":"Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells.","description":"Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune disease-associated loci; however, the causal genetic variants within each locus are mostly unknown. Here, we perform high-throughput allele-specific reporter assays to prioritize disease-associated variants for five autoimmune diseases. By examining variants that both promote allele-specific reporter expression and are located in accessible chromatin, we identify 60 putatively causal variants that enrich for statistically fine-mapped variants by up to 57.8-fold. We introduced the risk allele of a prioritized variant (rs72928038) into a human T cell line and deleted the orthologous sequence in mice, both resulting in reduced BACH2 expression. Naive CD8 T cells from mice containing the deletion had reduced expressi","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2026-05-31T15:54:17.44Z","creation":"2025-04-04T12:45:46.675Z"},"accession":"S-EPMC9793778","cross_references":{"pubmed":["35513721"],"doi":["10.1038/s41588-022-01056-5"]}}