Profiling of 27 type 2 diabetes GWAS loci using next-generation (NG) capture C in a human beta-cell model

Most type 2 diabetes association signals are due to variants that impact gene regulation but identifying the genes they impact is challenging. We generated interaction profiles at 27 T2D GWAS loci using next-generation (NG) capture C in a human beta-cell model ( EndoC-betaH1) and contrasted our maps with public Hi-C/promoter capture Hi-C maps in EndoC-betaH1 cells or human islets.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001008655	Most type 2 diabetes association signals are due to variants that impact gene regulation but identifying the genes they impact is challenging. We generated interaction profiles at 27 T2D GWAS loci using next-generation (NG) capture C (6 replicates) in the human beta-cell model, EndoC-betaH1, along with chromatin accessibility profiling using ATAC-Seq (9 replicates).	NextSeq 500	15
EGAD00001011374	HNF1A haploinsufficiency causes decreased insulin expression, dysregulation of pancreatic progenitor signature genes and affects chromatin accessibility	Illumina NovaSeq 6000 NextSeq 500	1

Publications	Citations
Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells. Torres JM, Sun H, Nylander V, Downes DJ, van de Bunt M, McCarthy MI, Hughes JR, Gloyn AL. Wellcome Open Res 8: 2023 165	0