Study

cis-eQTL mapping of human pancreatic islets

Study ID Alternative Stable ID Type
EGAS00001001265 Metagenomics

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001001601 The intersection of genome-wide association analyses with physiological and functional data indicates that variants regulating islet gene transcription influence type 2 diabetes (T2D) predisposition and glucose homeostasis. However, the specific genes through which these regulatory variants act remain poorly characterized. To identify such effector transcripts for T2D and glycemic traits, we generated expression quantitative trait locus (eQTL) data in 118 human islet samples using RNA-sequencing and high-density genotyping. Illumina HiSeq 2000 118

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Publications

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
83
Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.
Elife 7:2018 None
31
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells.
Nat Genet 50:2018 1122-1131
15
Developing a network view of type 2 diabetes risk pathways through integration of genetic genomic and functional data.
Genome Med 11:2019 19
8
<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
0