Petersen, R;
Lambourne, JJ;
Javierre, BM;
Grassi, L;
Kreuzhuber, R;
Ruklisa, D;
Rosa, IM;
... Frontini, M; + view all
(2017)
Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
Nature Communications
, 8
, Article 16058. 10.1038/ncomms16058.
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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.
| Type: | Article |
|---|---|
| Title: | Platelet function is modified by common sequence variation in megakaryocyte super enhancers |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/ncomms16058 |
| Publisher version: | http://dx.doi.org/10.1038/ncomms16058 |
| Language: | English |
| Additional information: | Copyright © The Author(s) 2017. Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10047332 |
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