Searchable abstracts of presentations at key conferences in endocrinology

ea0065ec1.1 | Early Career Prize Lecture Basic Science | SFEBES2019

Unravelling of new type 2 diabetes genes with 3D chromatin topology analysis and CRISPR-Cas9 perturbations

Cebola Ines , Miguel-Escalada Irene , Bonas-Guarch Silvia , Ponsa-Cobas Joan , Atla Goutham , Javierre Biola , Ravassard Philippe , Fraser Peter , Ferrer Jorge

Genome-wide association studies have identified nearly 250 loci carrying genetic variants associated with type 2 diabetes (T2D) susceptibility, which are often located within pancreatic islet transcriptional enhancers. Due to the complex nature of transcriptional enhancers, assigning risk variants to true disease susceptibility effector genes has remained a challenge. In this study, we applied promoter capture Hi-C to create a genome-wide map of promoter-enhancer interactions ...