Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 28703137.
- Also identified by DOI 10.1038/ncomms16058 and PMC identifier 5511350.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
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 identify potential regulatory functions for 423 of 565 (75%) non-coding variants associated with platelet traits and we demonstrate, through ex vivo and proof of principle genome editing validation, that variants in super enhancers play an important role in controlling archetypical platelet functions.
Medical subject headings
- Blood Platelets
- Enhancer Elements, Genetic
- Erythroblasts
- Genetic Variation
- Megakaryocytes