Interpreting type 1 diabetes risk with genetics and single-cell epigenomics.

ABSTRACT: Genetic risk variants that have been identified in genome-wide association studies of complex diseases are primarily non-coding¹. Translating these risk variants into mechanistic insights requires detailed maps of gene regulation in disease-relevant cell types². Here we combined two approaches: a genome-wide association study of type 1 diabetes (T1D) using 520,580 samples, and the identification of candidate cis-regulatory elements (cCREs) in pancreas and peripheral blood mononuclear cells using single-nucleus assay for transposase-accessible chromatin with sequencing (snATAC-seq) of 131,554 nuclei. Risk variants for T1D were enriched in cCREs that were active in T cells and other cell types, including acinar and ductal cells of the exocrine pancreas. Risk variants at

SUBMITTER: Chiou J 

PROVIDER: S-EPMC10560508 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature