Article
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Nature communications - 7 Apr 2015
Tapper William, Jones Amy V, Kralovics Robert, Harutyunyan Ashot S, Zoi Katerina, Leung William, Godfrey Anna L, Guglielmelli Paola, Callaway Alison, Ward Daniel, Aranaz Paula, White Helen E, Waghorn Katherine, Lin Feng, Chase Andrew, Baxter E Joanna, Maclean Cathy, Nangalia Jyoti, Chen Edwin, Evans Paul, Short Michael, Jack Andrew, Wallis Louise, Oscier David, Duncombe Andrew S, Schuh Anna, Mead Adam J, Griffiths Michael, Ewing Joanne, Gale Rosemary E, Schnittger Susanne, Haferlach Torsten, Stegelmann Frank, Döhner Konstanze, Grallert Harald, Strauch Konstantin, Tanaka Toshiko, Bandinelli Stefania, Giannopoulos Andreas, Pieri Lisa, Mannarelli Carmela, Gisslinger Heinz, Barosi Giovanni, Cazzola Mario, Reiter Andreas, Harrison Claire, Campbell Peter, Green Anthony R, Vannucchi Alessandro, Cross Nicholas C P
Abstract excerpt
Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide association study of 3,437 MPN cases and 10,083 controls, we identify two SNPs with genome-wide significance in JAK2(V617F)-negative MPN: rs12339666 (JAK2; meta-analysis P=1.27 × 10(-10)) and rs2201862...
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