Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
Author(s)
Type
Journal Article
Abstract
Type 2 diabetes affects over 300 million people, causing severe complications and premature death, yet the underlying molecular mechanisms are largely unknown. Pancreatic islet dysfunction is central in type 2 diabetes pathogenesis, and understanding islet genome regulation could therefore provide valuable mechanistic insights. We have now mapped and examined the function of human islet cis-regulatory networks. We identify genomic sequences that are targeted by islet transcription factors to drive islet-specific gene activity and show that most such sequences reside in clusters of enhancers that form physical three-dimensional chromatin domains. We find that sequence variants associated with type 2 diabetes and fasting glycemia are enriched in these clustered islet enhancers and identify trait-associated variants that disrupt DNA binding and islet enhancer activity. Our studies illustrate how islet transcription factors interact functionally with the epigenome and provide systematic evidence that the dysregulation of islet enhancers is relevant to the mechanisms underlying type 2 diabetes.
Date Issued
2014-02-01
Date Acceptance
2013-12-12
Citation
Nature Genetics, 2014, 46 (2), pp.136-+
ISSN
1546-1718
Publisher
Nature Publishing Group
Start Page
136
End Page
+
Journal / Book Title
Nature Genetics
Volume
46
Issue
2
Copyright Statement
© 2014. The Authors. Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
Sponsor
Wellcome Trust
Imperial College Healthcare NHS Trust- BRC Funding
Imperial College Healthcare NHS Trust- BRC Funding
Imperial College Healthcare NHS Trust- BRC Funding
Grant Number
101033/C/13/Z
RDC03 79560
RDB03 79560
RDC03 79560
Subjects
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
GENETICS & HEREDITY
BETA-CELL
TRANSCRIPTION FACTORS
GENE-EXPRESSION
HISTONE MODIFICATIONS
REGULATORY REGIONS
PROVIDES INSIGHTS
SUPER-ENHANCERS
HUMAN GENOME
CHROMATIN
LIVER
Publication Status
Published
Date Publish Online
2014-01-12