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

Title: Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
Name(s): Petersen, Romina, author
Lambourne, John J, author
Javierre, Biola M, author
Grassi, Luigi, author
Kreuzhuber, Roman, author
Ruklisa, Dace, author
Rosa, Isabel M, author
Tomé, Ana R, author
Elding, Heather, author
van Geffen, Johanna P, author
Jiang, Tao, author
Farrow, Samantha, author
Cairns, Jonathan, author
Al-Subaie, Abeer M, author
Ashford, Sofie, author
Attwood, Antony, author
Batista, Joana, author
Bouman, Heleen, author
Burden, Frances, author
Choudry, Fizzah A, author
Clarke, Laura, author
Flicek, Paul, author
Garner, Stephen F, author
Haimel, Matthias, author
Kempster, Carly, author
Ladopoulos, Vasileios, author
Lenaerts, An-Sofie, author
Materek, Paulina M, author
McKinney, Harriet, author
Meacham, Stuart, author
Mead, Daniel, author
Nagy, Magdolna, author
Penkett, Christopher J, author
Rendon, Augusto, author
Seyres, Denis, author
Sun, Benjamin, author
Tuna, Salih, author
van der Weide, Marie-Elise, author
Wingett, Steven W, author
Martens, Joost H, author
Stegle, Oliver, author
Richardson, Sylvia, author
Vallier, Ludovic, author
Roberts, David J, author
Freson, Kathleen, author
Wernisch, Lorenz, author
Stunnenberg, Hendrik G, author
Danesh, John, author
Fraser, Peter, author
Soranzo, Nicole, author
Butterworth, Adam S, author
Heemskerk, Johan W, author
Turro, Ernest, author
Spivakov, Mikhail, author
Ouwehand, Willem H, author
Astle, William J, author
Downes, Kate, author
Kostadima, Myrto, author
Frontini, Mattia, author
Type of Resource: text
Genre: Journal Article
Date Issued: 2017-07-13
Physical Form: computer
online resource
Extent: 1 online resource
Language(s): English
Abstract/Description: 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.
Identifier: FSU_pmch_28703137 (IID), 10.1038/ncomms16058 (DOI), PMC5511350 (PMCID), 28703137 (RID), 28703137 (EID), ncomms16058 (PII)
Grant Number: G0800270, RG/08/014/24067, MC_UP_0801/1, MR/L003120/1, MR/L007150/1, RP-PG-0310-1004, 268834, , MC_U105260799, MC_PC_12009
Publication Note: This NIH-funded author manuscript originally appeared in PubMed Central at
Subject(s): Blood Platelets/physiology
Enhancer Elements, Genetic
Genetic Variation
Promoter Regions, Genetic
Persistent Link to This Record:
Owner Institution: FSU
Is Part Of: Nature communications.
Issue: vol. 8

Choose the citation style.
Petersen, R., Lambourne, J. J., Javierre, B. M., Grassi, L., Kreuzhuber, R., Ruklisa, D., … Frontini, M. (2017). Platelet function is modified by common sequence variation in megakaryocyte super enhancers. Nature Communications. Retrieved from