ArticleNature communications2015
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
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Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers.
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95citing papers in PubMed
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Who cites it
95 citing papers in PubMed, 162 citations in OpenAlex.
- Familial risks of acute myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms.Blood · 2018Trial
- Homozygosity of germ lineBlood neoplasia · 2026Article
- Optimized post-GWAS analysis identifies therapeutic targets for essential thrombocythemia and polycythemia vera.Communications medicine · 2026Article
- The Intricate Dance Between Inflammation and Myeloproliferative Neoplasms: From Origins to Outcomes.Current hematologic malignancy reports · 2026Review
- Article
- The Causal Role of the Gut Microbiota-Plasma Metabolome Axis in Myeloproliferative Neoplasm Pathogenesis: A Mendelian Randomization and Mediation Analysis.Metabolites · 2025Article
- Polycythaemia vera.Nature reviews. Disease primers · 2025Review
- Evolution of myeloproliferative neoplasms from normal blood stem cells.Haematologica · 2025Review
- Landscape of TET2 Mutations: From Hematological Malignancies to Solid Tumors.Cancer medicine · 2025Review
- JAK2 mutational status and the contribution of TERT and JAK2 polymorphisms to the occurrence of myeloproliferative neoplasms in Eastern Morocco.African health sciences · 2024Article
- Review
- Exploring hematological alterations and genetics linked to SNV rs10974944 in myeloproliferative neoplasms among Amazon patients.Scientific reports · 2024Article
- Germline predisposition for clonal hematopoiesis.Seminars in hematology · 2024Review
- Inherited polygenic effects on common hematological traits influence clonal selection on JAK2Nature genetics · 2024Article
- Article
- Novel Serum Proteomes Expressed from Benzene Exposure Among Gasoline Station Attendants.Biomarker insights · 2024Article
- Editorial: Biological and clinical implications of the mutational landscape in myeloproliferative neoplasms.Frontiers in oncology · 2024Article
- MYB as a Critical Transcription Factor and Potential Therapeutic Target in AML.Advances in experimental medicine and biology · 2024Review
- Diagnosis- and Prognosis-Related Gene Alterations inInternational journal of molecular sciences · 2023Review
- Review
35 more citing papers are in PubMed but not listed here.
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Authors and funding
50 authors at 20 institutions in 6 countries.
William Tapper1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Amy V Jones1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Robert KralovicsCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
Ashot S HarutyunyanCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
Katerina ZoiHaematology Research Laboratory, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece.
William Leung1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Anna L Godfrey1] Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0XY, UK [2] Department of Haematology, University of Cambridge, Cambridge CB2 0XY, UK.
Paola GuglielmelliLaboratorio Congiunto MMPC, Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy.
Alison CallawayWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Daniel WardWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Paula AranazWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Helen E White1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Katherine Waghorn1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Feng Lin1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Andrew Chase1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
E Joanna Baxter1] Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0XY, UK [2] Department of Haematology, University of Cambridge, Cambridge CB2 0XY, UK.
Cathy Maclean1] Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0XY, UK [2] Department of Haematology, University of Cambridge, Cambridge CB2 0XY, UK.
Jyoti Nangalia1] Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0XY, UK [2] Department of Haematology, University of Cambridge, Cambridge CB2 0XY, UK.
Edwin Chen1] Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0XY, UK [2] Department of Haematology, University of Cambridge, Cambridge CB2 0XY, UK.
Paul EvansHaematological Malignancy Diagnostic Service, St James's Institute of Oncology, Bexley Wing, St James's University Hospital, Leeds LS9 7TF, UK.
Michael ShortHaematological Malignancy Diagnostic Service, St James's Institute of Oncology, Bexley Wing, St James's University Hospital, Leeds LS9 7TF, UK.
Andrew JackHaematological Malignancy Diagnostic Service, St James's Institute of Oncology, Bexley Wing, St James's University Hospital, Leeds LS9 7TF, UK.
Louise WallisDepartment of Haematology, Royal Bournemouth Hospital, Bournemouth BH7 7DW, UK.
David OscierDepartment of Haematology, Royal Bournemouth Hospital, Bournemouth BH7 7DW, UK.
Andrew S DuncombeDepartment of Haematology, University Hospital Southampton, Southampton SO16 6YD, UK.
Anna SchuhOxford Biomedical Research Centre, Molecular Diagnostic Laboratory, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK.
Adam J MeadHaematopoietic Stem Cell Biology Laboratory, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
Michael Griffiths1] School of Cancer Sciences, University of Birmingham,, Birmingham B15 2TT, UK [2] West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.
Joanne EwingBirmingham Heartlands Hospital, Birmingham B9 5SS, UK.
Rosemary E GaleDepartment of Haematology, UCL Cancer Institute, London WC1 E6BT, UK.
Susanne SchnittgerMLL Munich Leukaemia Laboratory, Munich 81377, Germany.
Torsten HaferlachMLL Munich Leukaemia Laboratory, Munich 81377, Germany.
Frank StegelmannDepartment of Internal Medicine III, University Hospital of Ulm, Ulm 89081, Germany.
Konstanze DöhnerDepartment of Internal Medicine III, University Hospital of Ulm, Ulm 89081, Germany.
Harald Grallert1] Institute of Epidemiology II, Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg 85764, Germany [2] German Center for Diabetes Research, Neuherberg 85764, Germany.
Konstantin Strauch1] Institute of Epidemiology II, Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg 85764, Germany [2] Institute of Medical Informatics, Biometry and Epidemiology, Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität, 80539 Munich, Germany.
Toshiko TanakaLongitudinal Study Section, Translational Gerontology Branch, National Institute on Aging, Baltimore, Maryland 21224-6825, USA.
Stefania BandinelliGeriatric Unit, Azienda Sanitaria Firenze (ASF), Florence 50122, Italy.
Andreas GiannopoulosHaematology Research Laboratory, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece.
Lisa PieriLaboratorio Congiunto MMPC, Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy.
Carmela MannarelliLaboratorio Congiunto MMPC, Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy.
Heinz GisslingerMedical University of Vienna, Department of Internal Medicine I, Division of Hematology and Blood Coagulation, Vienna 1090, Austria.
Giovanni BarosiCenter for the Study of Myelofibrosis, IRCCS Policlinico San Matteo Foundation, Pavia 27100, Italy.
Mario Cazzola1] Department of Molecular Medicine, University of Pavia, Pavia, Italy [2] Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia 27100, Italy.
Andreas ReiterIII. Medizinische Klinik, Universitätsmedizin Mannheim, Mannheim 68167, Germany.
Claire HarrisonDepartment of Haematology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London SE1 9RT, UK.
Peter CampbellCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Anthony R Green1] Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0XY, UK [2] Department of Haematology, University of Cambridge, Cambridge CB2 0XY, UK.
Alessandro VannucchiLaboratorio Congiunto MMPC, Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy.
Nicholas C P Cross1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Addenbrooke's Hospital · GBWessex Regional Genetics Laboratory · GBUniversity of Florence · ITSalisbury District Hospital · GBSt James's University Hospital · GBUniversity of Southampton · GBAcademy of Athens · GRHelmholtz Zentrum München · DEMunich Leukemia Laboratory (Germany) · DERoyal Bournemouth Hospital · GBUniversity Hospital Ulm · DEAustrian Academy of Sciences · ATAzienda Sanitaria di Firenze · ITCeMM Research Center for Molecular Medicine · ATCRUK Lung Cancer Centre of Excellence · GBGuy's and St Thomas' NHS Foundation Trust · GBHeartlands Hospital · GBMedical University of Vienna · ATNational Institute on Aging · USOxford University Hospitals NHS Trust · GB
Funding
The Aging Genome Association Study "AGE-GAIN"ZIAAG000965 · NIA · NATIONAL INSTITUTE ON AGING · PI FERRUCCI, LUIGI · 2009 to 2025
$4.0MHISPANIC SECONDARY STROKE PREVENTION INITIATIVER01MD009164 · NIMHD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN · 2014 to 2018
$1.9MAustrian Science Fund FWF P 23257Cancer Research UK 8961Department of HealthMedical Research Council MC_UU_12009/16Medical Research Council MR/L006340/1NIMHD NIH HHS 263 MD 821336NIMHD NIH HHS 263 MD 9164NIMHD NIH HHS R01 MD009164Wellcome Trust 07611Wellcome Trust 97922
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 genome-wide significance in JAK2(V617F)-negative MPN: rs12339666 (JAK2; meta-analysis P=1.27 × 10(-10)) and rs2201862 (MECOM; meta-analysis P=1.96 × 10(-9)). Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)). Reduced MYB expression, previously linked to development of an ET-like disease in model systems, associates with rs9376092 in normal myeloid cells. These findings demonstrate that multiple germline variants predispose to MPN and link constitutional differences in MYB expression to disease phenotype.
Indexed as
AdultAgedAllelesCalreticulinCase-Control StudiesCohort StudiesDNA-Binding ProteinsFemaleGene FrequencyGenes, mybGenetic Predisposition to DiseaseGenetic VariationGenotypeGTP-Binding ProteinsHSP70 Heat-Shock ProteinsHumansCalreticulinCALR protein, humanDNA-Binding ProteinsGTP-Binding ProteinsHBS1L protein, humanHSP70 Heat-Shock ProteinsJAK2 protein, humanJanus Kinase 2MDS1 and EVI1 Complex Locus ProteinMECOM protein, humanMPL protein, humanPeptide Elongation FactorsReceptors, ThrombopoietinTelomeraseTERT protein, humanTranscription Factors
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