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Researchers from Children's Hospital of Philadelphia (CHOP) used advanced three-dimensional mapping techniques to identify a large number of pancreatic gene variants associated with type 2 diabetes and corresponding target gene pairings
The results of this study were published in the journal Cell Metabolism
Cases of type 2 diabetes are on the rise, and patients are diagnosed at an earlier
One of the challenges in studying genetic variation is to envision the function
"If you don't have a precise map of how genes fold together in cells, you're essentially guessing the role these gene variants play, and in this study we applied three-dimensional mapping techniques to chromosomes of highly correlated cell types, which allowed us to identify a range of genes
In this study, the researchers used a variety of techniques to detect purified acinar, alpha, and beta cells in the human pancreas at the single-cell level, creating their three-dimensional epigenomic profiles
One of the limitations of the paper is that these newly involved genetic variants were not fully validated in functional follow-up studies
"Previous studies appear to support many of our findings over the course of this work, and with additional validation and imaging tools, a more aggressive pathogenesis of type 2 diabetes can be isolated at the gene level," said Dr.
The research was supported
Original search:
Su et al, “3D chromatin maps of the human pancreas reveal lineage-specific regulatory architecture of T2D risk.
