Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

Erik L. Bao, Satish K. Nandakumar, Xiaotian Liao, Alexander G. Bick, Juha Karjalainen, Marcin Tabaka, Olga I. Gan, Aki S. Havulinna, Tuomo T. J. Kiiskinen, Caleb A. Lareau, Aitzkoa L. Lapuente Portilla, Bo Li, Connor Emdin, Veryan Codd, Christopher P. Nelson, Christopher J. Walker, Claire Churchhouse, Albert Chapelle, Daryl E. Klein, Björn Nilsson, Peter W. F. Wilson, Kelly Cho, Saiju Pyarajan, J. Michael Gaziano, Nilesh J. Samani, Aviv Regev, Aarno Palotie, Benjamin M. Neale, John E. Dick, Pradeep Natarajan, Christopher J. O’Donnell, Mark J. Daly, Michael Milyavsky, Sekar Kathiresan and Vijay G. Sankaran ()
Additional contact information
Erik L. Bao: Harvard Medical School
Satish K. Nandakumar: Harvard Medical School
Xiaotian Liao: Harvard Medical School
Alexander G. Bick: Broad Institute of MIT and Harvard
Juha Karjalainen: University of Helsinki
Marcin Tabaka: Broad Institute of MIT and Harvard
Olga I. Gan: University Health Network
Aki S. Havulinna: University of Helsinki
Tuomo T. J. Kiiskinen: University of Helsinki
Caleb A. Lareau: Harvard Medical School
Aitzkoa L. Lapuente Portilla: Lund University
Bo Li: Broad Institute of MIT and Harvard
Connor Emdin: Broad Institute of MIT and Harvard
Veryan Codd: Glenfield Hospital
Christopher P. Nelson: Glenfield Hospital
Christopher J. Walker: The Ohio State University Comprehensive Cancer Center
Claire Churchhouse: Broad Institute of MIT and Harvard
Albert Chapelle: The Ohio State University Comprehensive Cancer Center
Daryl E. Klein: Yale University School of Medicine
Björn Nilsson: Broad Institute of MIT and Harvard
Peter W. F. Wilson: Atlanta VA Medical Center
Kelly Cho: Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System
Saiju Pyarajan: Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System
J. Michael Gaziano: Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System
Nilesh J. Samani: Glenfield Hospital
Aviv Regev: Broad Institute of MIT and Harvard
Aarno Palotie: Broad Institute of MIT and Harvard
Benjamin M. Neale: Broad Institute of MIT and Harvard
John E. Dick: University Health Network
Pradeep Natarajan: Broad Institute of MIT and Harvard
Christopher J. O’Donnell: VA Boston Healthcare, Section of Cardiology
Mark J. Daly: Broad Institute of MIT and Harvard
Michael Milyavsky: Tel Aviv University
Sekar Kathiresan: Broad Institute of MIT and Harvard
Vijay G. Sankaran: Harvard Medical School

Nature, 2020, vol. 586, issue 7831, 769-775

Abstract: Abstract Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the excessive production of mature myeloid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs). Epidemiological studies indicate a substantial heritable component of MPNs that is among the highest known for cancers1. However, only a limited number of genetic risk loci have been identified, and the underlying biological mechanisms that lead to the acquisition of MPNs remain unclear. Here, by conducting a large-scale genome-wide association study (3,797 cases and 1,152,977 controls), we identify 17 MPN risk loci (P

Date: 2020
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DOI: 10.1038/s41586-020-2786-7

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