Benjamin Means
Research Mentor(s): Christa Ventresca
Department or Program: Human Genetics / Bioinformatics
Authors: Benjamin Means, Elena Wood, Arushi Varshney, Peter Orchard, Yao-chang Tsan, Andre
Monteiro da Rocha, Markku Laakso, Jaakko Tuomilehto, Timo A. Lakka, Karen L. Mohlke,
Michael Boehnke, Laura Scott, Heikki A. Koistinen, Francis S. Collins, Todd Herron, Stephanie Bielas, Stephen C. J. Parker, and Christa Ventresca
Session: Session 2: 1:00pm-1:50pm
Poster: 31
Abstract
Genome wide association study (GWAS) signals regarding variants at type 2 diabetes (T2D)
and related trait loci indicates there may be an impact to T2D risk via skeletal muscle, an
insulin-responsive tissue. Previously we have generated in vivo single nucleus (sn-)multi-omnics (RNA+ATAC) profiles from 286 skeletal muscle biopsies from the FUSION Tissue Biopsy Study. We found that subsets of GWAS signals colocalize with cell-type specific e/caQTL in fibro-adipogenic progenitors (FAPs). Previously, we found that we can derive FAPs from induced pluripotent stem cells. We found that after differentiation that we can greatly increase the presence of FAP markers (98.9%) and decrease the presence of iPSC markers (.19%). Building from this, we are upscaling to 38* iPSC derived FAP lines from the FUSION cohort, growing the lines and placing them into a variety of environments including high glucose, high insulin, and basal environments to analyze gene expression and chromatin accessibility. We hope that this will give us insight into different T2D pathways to further the understanding of the complex disease.
