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

L Alonso, A Piron, I Morán, M Guindo-Martínez… - Cell reports, 2021 - cell.com
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 …

Genetic regulatory signatures underlying islet gene expression and type 2 diabetes

A Varshney, LJ Scott, RP Welch… - Proceedings of the …, 2017 - National Acad Sciences
Genome-wide association studies (GWAS) have identified> 100 independent SNPs that
modulate the risk of type 2 diabetes (T2D) and related traits. However, the pathogenic …

Integration of human pancreatic islet genomic data refines regulatory mechanisms at type 2 diabetes susceptibility loci

M Thurner, M Van De Bunt, JM Torres, A Mahajan… - Elife, 2018 - elifesciences.org
Human genetic studies have emphasised the dominant contribution of pancreatic islet
dysfunction to development of Type 2 Diabetes (T2D). However, limited annotation of the …

[HTML][HTML] Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures

V Rai, DX Quang, MR Erdos, DA Cusanovich… - Molecular …, 2020 - Elsevier
Abstract Objective Type 2 diabetes (T2D) is a complex disease characterized by pancreatic
islet dysfunction, insulin resistance, and disruption of blood glucose levels. Genome-wide …

Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics

NAJ Krentz, AL Gloyn - Nature Reviews Endocrinology, 2020 - nature.com
Type 2 diabetes mellitus (T2DM) is an increasingly prevalent multifactorial disease that has
both genetic and environmental risk factors, resulting in impaired glucose homeostasis …

Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism

J Fadista, P Vikman, EO Laakso… - Proceedings of the …, 2014 - National Acad Sciences
Genetic variation can modulate gene expression, and thereby phenotypic variation and
susceptibility to complex diseases such as type 2 diabetes (T2D). Here we harnessed the …

[HTML][HTML] Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci

ML Stitzel, P Sethupathy, DS Pearson, PS Chines… - Cell metabolism, 2010 - cell.com
Identifying cis-regulatory elements is important to understanding how human pancreatic
islets modulate gene expression in physiologic or pathophysiologic (eg, diabetic) conditions …

From genetic association to molecular mechanisms for islet-cell dysfunction in type 2 diabetes

KK Mattis, AL Gloyn - Journal of molecular biology, 2020 - Elsevier
Genome-wide association studies (GWAS) have identified over 400 signals robustly
associated with risk for type 2 diabetes (T2D). At the vast majority of these loci, the lead …

Genomics of islet (dys) function and type 2 diabetes

N Lawlor, S Khetan, D Ucar, ML Stitzel - Trends in Genetics, 2017 - cell.com
Pancreatic islet dysfunction and beta cell failure are hallmarks of type 2 diabetes mellitus
(T2DM) pathogenesis. In this review, we discuss how genome-wide association studies …

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

A Wesolowska-Andersen, G Zhuo Yu, V Nylander… - Elife, 2020 - elifesciences.org
Genome-wide association analyses have uncovered multiple genomic regions associated
with T2D, but identification of the causal variants at these remains a challenge. There is …