Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation

Identifying causal variants at GWAS loci is important to understand disease mechanisms. Here the authors use massively parallel reporter assays to identify type 2 diabetes-associated variants that alter cis-regulatory activity, narrowing in on the causal variants and genetic mechanisms behind the di...

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Main Authors: Shubham Khetan, Susan Kales, Romy Kursawe, Alexandria Jillette, Jacob C. Ulirsch, Steven K. Reilly, Duygu Ucar, Ryan Tewhey, Michael L. Stitzel
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-25514-6
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spelling doaj-7935194eff76489e8d239c6329e3802f2021-09-05T11:44:14ZengNature Publishing GroupNature Communications2041-17232021-09-0112111310.1038/s41467-021-25514-6Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activationShubham Khetan0Susan Kales1Romy Kursawe2Alexandria Jillette3Jacob C. Ulirsch4Steven K. Reilly5Duygu Ucar6Ryan Tewhey7Michael L. Stitzel8The Jackson Laboratory for Genomic MedicineThe Jackson Laboratory for Mammalian GeneticsThe Jackson Laboratory for Genomic MedicineThe Jackson Laboratory for Genomic MedicineProgram in Biological and Biomedical Sciences, Harvard Medical SchoolBroad Institute of MIT and HarvardThe Jackson Laboratory for Genomic MedicineThe Jackson Laboratory for Mammalian GeneticsThe Jackson Laboratory for Genomic MedicineIdentifying causal variants at GWAS loci is important to understand disease mechanisms. Here the authors use massively parallel reporter assays to identify type 2 diabetes-associated variants that alter cis-regulatory activity, narrowing in on the causal variants and genetic mechanisms behind the disease.https://doi.org/10.1038/s41467-021-25514-6
collection DOAJ
language English
format Article
sources DOAJ
author Shubham Khetan
Susan Kales
Romy Kursawe
Alexandria Jillette
Jacob C. Ulirsch
Steven K. Reilly
Duygu Ucar
Ryan Tewhey
Michael L. Stitzel
spellingShingle Shubham Khetan
Susan Kales
Romy Kursawe
Alexandria Jillette
Jacob C. Ulirsch
Steven K. Reilly
Duygu Ucar
Ryan Tewhey
Michael L. Stitzel
Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation
Nature Communications
author_facet Shubham Khetan
Susan Kales
Romy Kursawe
Alexandria Jillette
Jacob C. Ulirsch
Steven K. Reilly
Duygu Ucar
Ryan Tewhey
Michael L. Stitzel
author_sort Shubham Khetan
title Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation
title_short Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation
title_full Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation
title_fullStr Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation
title_full_unstemmed Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation
title_sort functional characterization of t2d-associated snp effects on baseline and er stress-responsive β cell transcriptional activation
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2021-09-01
description Identifying causal variants at GWAS loci is important to understand disease mechanisms. Here the authors use massively parallel reporter assays to identify type 2 diabetes-associated variants that alter cis-regulatory activity, narrowing in on the causal variants and genetic mechanisms behind the disease.
url https://doi.org/10.1038/s41467-021-25514-6
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