Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Nat Commun ; 8: 16058, 2017 07 13.
Article in English | MEDLINE | ID: mdl-28703137

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.


Subject(s)
Blood Platelets/physiology , Enhancer Elements, Genetic , Erythroblasts/chemistry , Genetic Variation , Megakaryocytes/chemistry , Chromatin , Humans , Promoter Regions, Genetic
SELECTION OF CITATIONS
SEARCH DETAIL
...