{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wachowski NA"],"funding":["Eunice Kennedy Shriver National Institute of Child Health and Human Development","NICHD NIH HHS","NIDDK NIH HHS","National Institute of Diabetes and Digestive and Kidney Diseases","Children's Hospital of Philadephia","Children's Hospital of Philadephia"],"pagination":["2740-2753"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11604697"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["67(12)"],"pubmed_abstract":["Aims/hypothesis
Genome-wide association studies (GWAS) have identified hundreds of type 2 diabetes loci, with the vast majority of signals located in non-coding regions; as a consequence, it remains largely unclear which 'effector' genes these variants influence. Determining these effector genes has been hampered by the relatively challenging cellular settings in which they are hypothesised to confer their effects.Methods
To implicate such effector genes, we elected to generate and integrate high-resolution promoter-focused Capture-C, assay for transposase-accessible chromatin with sequencing (ATAC-seq) and RNA-seq datasets to characterise chromatin and expression profiles in multiple cell lines relevant to type 2 diabetes for subsequent functional follow-up analyses: EndoC"],"journal":["Diabetologia"],"pubmed_title":["Implicating type 2 diabetes effector genes in relevant metabolic cellular models using promoter-focused Capture-C."],"pmcid":["PMC11604697"],"funding_grant_id":["R01 HD056465","R01HD056465","Daniel B. Burke Endowed Chair for Diabetes Researc","UM1 DK126194"],"pubmed_authors":["Parlin UW","Pahl MC","Wells AD","Lu S","Wabitsch M","Pippin JA","Chesi A","Leonard ME","Wachowski NA","Boehm K","Manduchi E","Grant SFA"],"additional_accession":[]},"is_claimable":false,"name":"Implicating type 2 diabetes effector genes in relevant metabolic cellular models using promoter-focused Capture-C.","description":"Aims/hypothesis
Genome-wide association studies (GWAS) have identified hundreds of type 2 diabetes loci, with the vast majority of signals located in non-coding regions; as a consequence, it remains largely unclear which 'effector' genes these variants influence. Determining these effector genes has been hampered by the relatively challenging cellular settings in which they are hypothesised to confer their effects.Methods
To implicate such effector genes, we elected to generate and integrate high-resolution promoter-focused Capture-C, assay for transposase-accessible chromatin with sequencing (ATAC-seq) and RNA-seq datasets to characterise chromatin and expression profiles in multiple cell lines relevant to type 2 diabetes for subsequent functional follow-up analyses: EndoC","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2026-06-03T03:24:32.903Z","creation":"2025-04-04T01:23:58.078Z"},"accession":"S-EPMC11604697","cross_references":{"pubmed":["39240351"],"doi":["10.1007/s00125-024-06261-x"]}}