Title: Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS.
Authors: Manduchi, Elisabetta; Chesi, Alessandra; Hall, Molly A; Grant, Struan F A; Moore, Jason H
Published In Pac Symp Biocomput, (2018)
Abstract: We utilized evidence for enhancer-promoter interactions from functional genomics data in order to build biological filters to narrow down the search space for two-way Single Nucleotide Polymorphism (SNP) interactions in Type 2 Diabetes (T2D) Genome Wide Association Studies (GWAS). This has led us to the identification of a reproducible statistically significant SNP pair associated with T2D. As more functional genomics data are being generated that can help identify potentially interacting enhancer-promoter pairs in larger collection of tissues/cells, this approach has implications for investigation of epistasis from GWAS in general.
PubMed ID: 29218913
MeSH Terms: Computational Biology/methods; Databases, Genetic/statistics & numerical data; Diabetes Mellitus, Type 2/genetics*; Enhancer Elements, Genetic; Epistasis, Genetic*; Genome-Wide Association Study/statistics & numerical data; Genomics/statistics & numerical data; Humans; Models, Genetic; Polymorphism, Single Nucleotide; Promoter Regions, Genetic