Type 2 Diabetes-Associated Genetic Variants Regulate Chromatin Accessibility in Human Islets.
Document Type
Article
Publication Date
11-2018
JAX Location
Reprint Collection
JAX Source
Diabetes 2018 Nov; 67(11):2466-2477
Volume
67
Issue
11
First Page
2466
Last Page
2477
ISSN
1939-327X
PMID
30181159
DOI
https://doi.org/10.2337/db18-0393
Grant
Doug Coleman research Fund at The Jackson Laboratory, DK092251, ADA Pathway to Stop Diabetes Accelerator Award 1-18-ACE-15
Abstract
Type 2 diabetes (T2D) is a complex disorder in which both genetic and environmental risk factors contribute to islet dysfunction and failure. Genome-wide association studies (GWAS) have linked single nucleotide polymorphisms (SNPs), most of which are noncoding, in >200 loci to islet dysfunction and T2D. Identification of the putative causal variants and their target genes and whether they lead to gain or loss of function remains challenging. Here, we profiled chromatin accessibility in pancreatic islet samples from 19 genotyped individuals and identified 2,949 SNPs associated with in vivo
Recommended Citation
Khetan S,
Kursawe R,
Youn A,
Lawlor N,
Jillette A,
Marquez E,
Ucar D,
Stitzel ML.
Type 2 Diabetes-Associated Genetic Variants Regulate Chromatin Accessibility in Human Islets. Diabetes 2018 Nov; 67(11):2466-2477
Comments
We thank Jane Cha, Jackson Laboratory for Genomic Medicine, for help generating artwork for the figures, members of the Stitzel and Ucar labs for helpful discussion and critiques during study design and execution, and Taneli Helenius, Jackson Laboratory for Genomic Medicine, and anonymous reviewers, whose comments, questions, and suggested edits greatly improved the quality and clarity of this manuscript.