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cis-eQTL mapping of human pancreatic islets

The intersection of genome-wide association analyses with physiological and functional data indicates that variants regulating islet gene transcription influence type 2 diabetes predisposition and glucose homeostasis. However, the specific genes through which these regulatory variants act remain poorly characterized. In this study, we generated eQTL data from human islet samples to establish the extent to which this allowed us to identify candidate effector transcripts at GWAS loci for T2D and glycemic traits.

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
EGAD00001001601 Illumina HiSeq 2000 118
Publications Citations
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors.
PLoS Genet 11: 2015 e1005694
126
Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.
Elife 7: 2018 e31977
61
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells.
Nat Genet 50: 2018 1122-1131
41
Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data.
Genome Med 11: 2019 19
22
<i>SKAP2</i>, a Candidate Gene for Type 1 Diabetes, Regulates β-Cell Apoptosis and Glycemic Control in Newly Diagnosed Patients.
Diabetes 70: 2021 464-476
7
CRISPR-based genome editing in primary human pancreatic islet cells.
Nat Commun 12: 2021 2397
21
A compendium of uniformly processed human gene expression and splicing quantitative trait loci.
Nat Genet 53: 2021 1290-1299
180
TIGER: The gene expression regulatory variation landscape of human pancreatic islets.
Cell Rep 37: 2021 109807
42
Genetic regulation of RNA splicing in human pancreatic islets.
Genome Biol 23: 2022 196
15