Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

Tapper, William; V. Jones, Amy; Královics, Róbert; S. Harutyunyan, Ashot; Zoi, Katerina; Leung, William; L. Godfrey, Anna; Guglielmelli, Paola; Callaway, Alison; Ward, Daniel; Aranaz, Paula; White, Helen; Waghorn, Katherine; Lin, Feng; Chase, Andrew; Joanna Baxter, E.; MacLean, Cathy; Nangalia, Jyoti; Chen, Edwin; Evans, Paul; Short, Michael; Jack, Andrew; Wallis, Louise; Oscier, David; Duncombe, Andrew; Schuh, Anna; J. Mead, Adam; Griffiths, Mike; Ewing, Joanne; E. Gale, Rosemary; 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; J. Campbell, Peter; R. Green, Anthony; M. Vannucchi, Alessandro; C.P. Cross, Nicholas

doi:10.1038/ncomms7691

Public

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

Published in Nature Communications • Apr 7, 2015

Authors:

William Tapper

Amy V. Jones

Róbert Královics

Abstract

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 genom...

Subject

Essential thrombocythemia

Biology

Genetics

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