Platelet function is modified by common sequence variation in megakaryocyte super enhancers

17 Aug 2017

Linking non-coding genetic variants associated with the risk of diseases or disease relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to determine the mechanisms underpinning variant association with platelet quantitative traits using cell type matched epigenomic data and promoter long-range interactions. We identified potential regulatory functions for 423 of 565 (75%) non-coding platelet variants and highlighted, including ex vivo and genome editing proof of principle validation, the role of associated variants in super enhancers in controlling archetypical platelet functions.