Article
Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation.
Nature communications - 2 Sept 2021
Khetan Shubham, Kales Susan, Kursawe Romy, Jillette Alexandria, Ulirsch Jacob C, Reilly Steven K, Ucar Duygu, Tewhey Ryan, Stitzel Michael L
Abstract excerpt
Genome-wide association studies (GWAS) have linked single nucleotide polymorphisms (SNPs) at >250 loci in the human genome to type 2 diabetes (T2D) risk. For each locus, identifying the functional variant(s) among multiple SNPs in high linkage disequilibrium is critical to understand molecular mechanisms underlying T2D genetic risk. Using massively parallel reporter assays (MPRA), we test the cis-regulatory...
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