Nature Communications (Sep 2021)

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

  • Shubham Khetan,
  • Susan Kales,
  • Romy Kursawe,
  • Alexandria Jillette,
  • Jacob C. Ulirsch,
  • Steven K. Reilly,
  • Duygu Ucar,
  • Ryan Tewhey,
  • Michael L. Stitzel

DOI
https://doi.org/10.1038/s41467-021-25514-6
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 13

Abstract

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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.