Human Pancreatic Islet Cell RNA Splice Regulation Offers Diabetes Clues

For a paper in Genome Biology, a team from the Barcelona Institute of Science and Technology and other international centers explore transcriptional regulation in pancreatic islet cells from hundreds of donor individuals. In an effort to better understand type 2 diabetes (T2D) and type 1 diabetes (T1D) risk, the investigators brought together RNA sequence and genotype profiles from 399 samples to focus in on pancreatic islet cell splicing quantitative trait loci (sQTLs) and expression QTLs (eQTLs), uncovering ties between T2D- or T1D-associated variants and apparent sQTLs affecting genes such as ERO1B and DCLRE1B, respectively. "We uncover sQTLs that show fine colocalization with genetic variants associated with T2D, discover new genetic associations, and expand the spectrum of putative gene effectors of disease susceptibility," the team writes, noting that "[w]e further reveal new candidate mediators of T1D susceptibility."