Multi-omics analysis revealed the rSNPs potentially involved in T2DM pathogenic mechanism and metformin response

Using experimental data on the genome-wide profile of active chromatin marks H3K4me3 and H3K27ac (ChIP-seq) and gene expression (RNA-seq) for peripheral blood mononuclear cells of nine healthy individuals, we searched for regulatory SNPs (rSNPs) in the promoter regions of genes (+- 1000 bp from TSS) by identifying allele-specific events. As a result, we formed a panel of 14,796 rSNPs, which presumably can influence the expression of 5,132 genes. Further analysis of this panel of rSNPs using independent transcriptomic data revealed that a significant proportion of the identified rSNPs are potentially involved in the pathogenesis of type 2 diabetes and individual response to the anti-hyperglycemic drug metformin.