Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
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ABSTRACT:
SUBMITTER: Petersen R
PROVIDER: S-EPMC5511350 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Publications
Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
Petersen Romina R Lambourne John J JJ Javierre Biola M BM Grassi Luigi L Kreuzhuber Roman R Ruklisa Dace D Rosa Isabel M IM Tomé Ana R AR Elding Heather H van Geffen Johanna P JP Jiang Tao T Farrow Samantha S Cairns Jonathan J Al-Subaie Abeer M AM Ashford Sofie S Attwood Antony A Batista Joana J Bouman Heleen H Burden Frances F Choudry Fizzah A FA Clarke Laura L Flicek Paul P Garner Stephen F SF Haimel Matthias M Kempster Carly C Ladopoulos Vasileios V Lenaerts An-Sofie AS Materek Paulina M PM McKinney Harriet H Meacham Stuart S Mead Daniel D Nagy Magdolna M Penkett Christopher J CJ Rendon Augusto A Seyres Denis D Sun Benjamin B Tuna Salih S van der Weide Marie-Elise ME Wingett Steven W SW Martens Joost H JH Stegle Oliver O Richardson Sylvia S Vallier Ludovic L Roberts David J DJ Freson Kathleen K Wernisch Lorenz L Stunnenberg Hendrik G HG Danesh John J Fraser Peter P Soranzo Nicole N Butterworth Adam S AS Heemskerk Johan W JW Turro Ernest E Spivakov Mikhail M Ouwehand Willem H WH Astle William J WJ Downes Kate K Kostadima Myrto M Frontini Mattia M
Nature communications 20170713
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 ...[more]
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