TIGER : The gene expression regulatory variation landscape of human pancreatic islets

Show full item record



Permalink

http://hdl.handle.net/10138/336812

Citation

MAGIC , Alonso , L , Piron , A , Moran , I , Groop , L & Torrents , D 2021 , ' TIGER : The gene expression regulatory variation landscape of human pancreatic islets ' , Cell Reports , vol. 37 , no. 2 , 109807 . https://doi.org/10.1016/j.celrep.2021.109807

Title: TIGER : The gene expression regulatory variation landscape of human pancreatic islets
Author: MAGIC; Alonso, Lorena; Piron, Anthony; Moran, Ignasi; Groop, Leif; Torrents, David
Contributor organization: Centre of Excellence in Complex Disease Genetics
HUS Abdominal Center
Institute for Molecular Medicine Finland
Leif Groop Research Group
Date: 2021-10-12
Language: eng
Number of pages: 22
Belongs to series: Cell Reports
ISSN: 2211-1247
DOI: https://doi.org/10.1016/j.celrep.2021.109807
URI: http://hdl.handle.net/10138/336812
Abstract: Genome-wide association studies (GWASs) identified hundreds of signals associated with type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have created the translational human pancreatic islet genotype tissue-expression resource (TIGER), aggregating >500 human islet genomic datasets from five cohorts in the Horizon 2020 consortium T2DSystems. We impute genotypes using four reference panels and meta-analyze cohorts to improve the coverage of expression quantitative trait loci (eQTL) and develop a method to combine allele-specific expression across samples (cASE). We identify >1 million islet eQTLs, 53 of which colocalize with T2D signals. Among them, a low-frequency allele that reduces T2D risk by half increases CCND2 expression. We identify eight cASE colocalizations, among which we found a T2D-associated SLC30A8 variant. We make all data available through the TIGER portal (http://tiger.bsc.es), which represents a comprehensive human islet genomic data resource to elucidate how genetic variation affects islet function and translates into therapeutic insight and precision medicine for T2D.
Subject: GENOME-WIDE ASSOCIATION
PANCREATECTOMIZED PATIENTS
PROVIDES INSIGHTS
READ ALIGNMENT
CHROMATIN
RISK
SECRETION
VARIANTS
BIOBANK
DESIGN
1182 Biochemistry, cell and molecular biology
Peer reviewed: Yes
Rights: cc_by_nc_nd
Usage restriction: openAccess
Self-archived version: publishedVersion


Files in this item

Total number of downloads: Loading...

Files Size Format View
PIIS2211124721012675.pdf 7.400Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record