New gene functions in megakaryopoiesis and platelet formation

Christian Gieger (), Aparna Radhakrishnan, Ana Cvejic, Weihong Tang, Eleonora Porcu, Giorgio Pistis, Jovana Serbanovic-Canic, Ulrich Elling, Alison H. Goodall, Yann Labrune, Lorna M. Lopez, Reedik Mägi, Stuart Meacham, Yukinori Okada, Nicola Pirastu, Rossella Sorice, Alexander Teumer, Katrin Voss, Weihua Zhang, Ramiro Ramirez-Solis, Joshua C. Bis, David Ellinghaus, Martin Gögele, Jouke-Jan Hottenga, Claudia Langenberg, Peter Kovacs, Paul F. O’Reilly, So-Youn Shin, Tõnu Esko, Jaana Hartiala, Stavroula Kanoni, Federico Murgia, Afshin Parsa, Jonathan Stephens, Pim van der Harst, C. Ellen van der Schoot, Hooman Allayee, Antony Attwood, Beverley Balkau, François Bastardot, Saonli Basu, Sebastian E. Baumeister, Ginevra Biino, Lorenzo Bomba, Amélie Bonnefond, François Cambien, John C. Chambers, Francesco Cucca, Pio D’Adamo, Gail Davies, Rudolf A. de Boer, Eco J. C. de Geus, Angela Döring, Paul Elliott, Jeanette Erdmann, David M. Evans, Mario Falchi, Wei Feng, Aaron R. Folsom, Ian H. Frazer, Quince D. Gibson, Nicole L. Glazer, Chris Hammond, Anna-Liisa Hartikainen, Susan R. Heckbert, Christian Hengstenberg, Micha Hersch, Thomas Illig, Ruth J. F. Loos, Jennifer Jolley, Kay-Tee Khaw, Brigitte Kühnel, Marie-Christine Kyrtsonis, Vasiliki Lagou, Heather Lloyd-Jones, Thomas Lumley, Massimo Mangino, Andrea Maschio, Irene Mateo Leach, Barbara McKnight, Yasin Memari, Braxton D. Mitchell, Grant W. Montgomery, Yusuke Nakamura, Matthias Nauck, Gerjan Navis, Ute Nöthlings, Ilja M. Nolte, David J. Porteous, Anneli Pouta, Peter P. Pramstaller, Janne Pullat, Susan M. Ring, Jerome I. Rotter, Daniela Ruggiero, Aimo Ruokonen, Cinzia Sala, Nilesh J. Samani, Jennifer Sambrook, David Schlessinger, Stefan Schreiber, Heribert Schunkert, James Scott, Nicholas L. Smith, Harold Snieder, John M. Starr, Michael Stumvoll, Atsushi Takahashi, W. H. Wilson Tang, Kent Taylor, Albert Tenesa, Swee Lay Thein, Anke Tönjes, Manuela Uda, Sheila Ulivi, Dirk J. van Veldhuisen, Peter M. Visscher, Uwe Völker, H.-Erich Wichmann, Kerri L. Wiggins, Gonneke Willemsen, Tsun-Po Yang, Jing Hua Zhao, Paavo Zitting, John R. Bradley, George V. Dedoussis, Paolo Gasparini, Stanley L. Hazen, Andres Metspalu, Mario Pirastu, Alan R. Shuldiner, L. Joost van Pelt, Jaap-Jan Zwaginga, Dorret I. Boomsma, Ian J. Deary, Andre Franke, Philippe Froguel, Santhi K. Ganesh, Marjo-Riitta Jarvelin, Nicholas G. Martin, Christa Meisinger, Bruce M. Psaty, Timothy D. Spector, Nicholas J. Wareham, Jan-Willem N. Akkerman, Marina Ciullo, Panos Deloukas, Andreas Greinacher, Steve Jupe, Naoyuki Kamatani, Jyoti Khadake, Jaspal S. Kooner, Josef Penninger, Inga Prokopenko, Derek Stemple, Daniela Toniolo, Lorenz Wernisch, Serena Sanna, Andrew A. Hicks, Augusto Rendon, Manuel A. Ferreira, Willem H. Ouwehand () and Nicole Soranzo ()
Additional contact information
Christian Gieger: Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr.1, 85764 Neuherberg, Germany.
Aparna Radhakrishnan: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Ana Cvejic: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Weihong Tang: University of Minnesota, Minneapolis, Minnesota 55455-0354, USA.
Eleonora Porcu: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.
Giorgio Pistis: San Raffaele Scientific Institute
Jovana Serbanovic-Canic: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Ulrich Elling: IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, 1030 Vienna, Austria.
Alison H. Goodall: University of Leicester, Glenfield Hospital, Groby Road, Leicester LE3 9QP, UK.
Yann Labrune: CNRS-UMR-8199, Institut de Biologie de Lille, 1 Rue du Professor Calmette, BP245, 59019 Lille Cedex, France.
Lorna M. Lopez: Centre for Cognitive Ageing and Cognitive Epidemiology, 7 George Square, The University of Edinburgh, Edinburgh EH8 9JZ, UK.
Reedik Mägi: Wellcome Trust Centre for Human Genetics, University of Oxford
Stuart Meacham: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Yukinori Okada: Laboratory for Statistical Analysis, RIKEN Center for Genomic Medicine, Institute of Physical and Chemical Research, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
Nicola Pirastu: Institute for Maternal and Child Health — IRCCS ‘Burlo Garofolo’ — via dell’Istria 65/1, 34137 Trieste, Italy.
Rossella Sorice: Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR, Via P. Castellino 111, 8031 Naples, Italy.
Alexander Teumer: Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, 17487 Greifswald, Germany.
Katrin Voss: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Weihua Zhang: School of Public Health, Faculty of Medicine, St Mary’s Campus, London W2 1PG, UK.
Ramiro Ramirez-Solis: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.
Joshua C. Bis: University of Washington, 1959 Northeast Pacific Street, Seattle, Washington 98195-0001, USA.
David Ellinghaus: Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.
Martin Gögele: Centre for Biomedicine, European Academy Bozen/Bolzano, Viale Druso 1, 39100 Bolzano, Italy.
Jouke-Jan Hottenga: VU University Amsterdam, De Boelelaan 1105, Van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Claudia Langenberg: MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital, Box 285, Cambridge CB2 0QQ, UK.
Peter Kovacs: Interdisciplinary Centre for Clinical Research, University of Leipzig, Inselstr. 22, 04103 Leipzig, Germany.
Paul F. O’Reilly: Imperial College London, London W2 1PG, UK.
So-Youn Shin: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.
Tõnu Esko: Estonian Genome Center, University of Tartu, Tiigi 61b, 50410 Tartu, Estonia.
Jaana Hartiala: Keck School of Medicine, University of Southern California
Stavroula Kanoni: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.
Federico Murgia: Institute of Population Genetics, National Council of Research, 07100 Sassari, Italy.
Afshin Parsa: University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, Maryland 21201-1559, USA.
Jonathan Stephens: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Pim van der Harst: University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
C. Ellen van der Schoot: Sanquin Research, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Hooman Allayee: Keck School of Medicine, University of Southern California
Antony Attwood: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Beverley Balkau: Inserm, CESP Centre for research in Epidemiology and Population Health, U1018 Villejuif, 94807 France.
François Bastardot: Service de Médecine Interne, CHUV, 1011 Lausanne, Switzerland.
Saonli Basu: School of Public Health, University of Minnesota, A460 Mayo Building, mmc 303, 420 Delaware St SE, Minneapolis, Minnesota 55455, USA.
Sebastian E. Baumeister: Institute for Community Medicine, Ernst-Moritz-Arndt-University Greifswald, 17475 Greifswald, Germany.
Ginevra Biino: Institute of Population Genetics, National Council of Research, 07100 Sassari, Italy.
Lorenzo Bomba: Istituto di Zootecnica, Universita’ Cattolica del Sacro Cuore sede Piacenza, via Emilia Parmense 84, 29122 Piacenza, Italy.
Amélie Bonnefond: CNRS-UMR-8199, Institut de Biologie de Lille, 1 Rue du Professor Calmette, BP245, 59019 Lille Cedex, France.
François Cambien: INSERM UMRS 937, Pierre and Marie Curie University (UPMC, Paris 6) and Medical School, 91 Bd de l’Hôpital, 75013 Paris, France.
John C. Chambers: School of Public Health, Faculty of Medicine, St Mary’s Campus, London W2 1PG, UK.
Francesco Cucca: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.
Pio D’Adamo: Institute for Maternal and Child Health — IRCCS ‘Burlo Garofolo’ — via dell’Istria 65/1, 34137 Trieste, Italy.
Gail Davies: The University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK.
Rudolf A. de Boer: University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
Eco J. C. de Geus: VU University Amsterdam, De Boelelaan 1105, Van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Angela Döring: Institute of Epidemiology I, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr.1, 85764 Neuherberg, Germany.
Paul Elliott: School of Public Health, Faculty of Medicine, St Mary’s Campus, London W2 1PG, UK.
Jeanette Erdmann: Universität zu Lübeck
David M. Evans: MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
Mario Falchi: School of Public Health, Imperial College London, The Commonwealth Building, The Hammersmith Hospital, Du Care Road, London W12 ONN, UK.
Wei Feng: School of Public Health, University of Minnesota, A460 Mayo Building, mmc 303, 420 Delaware St SE, Minneapolis, Minnesota 55455, USA.
Aaron R. Folsom: University of Minnesota, Minneapolis, Minnesota 55455-0354, USA.
Ian H. Frazer: The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Queensland 4102, Australia.
Quince D. Gibson: University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, Maryland 21201-1559, USA.
Nicole L. Glazer: Boston University
Chris Hammond: King’s College London, London SE1 7EH, UK.
Anna-Liisa Hartikainen: University of Oulu, Aapistie 7, Oulu, 90220 Finland.
Susan R. Heckbert: University of Washington
Christian Hengstenberg: Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg, 93053 Regensburg, Germany.
Micha Hersch: University of Lausanne, and Swiss Institute of Bioinformatics
Thomas Illig: Unit for Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr.1, 85764 Neuherberg, Germany.
Ruth J. F. Loos: MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital, Box 285, Cambridge CB2 0QQ, UK.
Jennifer Jolley: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Kay-Tee Khaw: Strangeways Research Laboratory, University of Cambridge, Cambridge CB1 8RN, UK.
Brigitte Kühnel: Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr.1, 85764 Neuherberg, Germany.
Marie-Christine Kyrtsonis: National and Kapodistrian University of Athens Medical School, Laikon General Hospital, Athens 11727, Greece.
Vasiliki Lagou: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
Heather Lloyd-Jones: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Thomas Lumley: University of Washington
Massimo Mangino: King’s College London, London SE1 7EH, UK.
Andrea Maschio: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.
Irene Mateo Leach: University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
Barbara McKnight: University of Washington
Yasin Memari: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.
Braxton D. Mitchell: University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, Maryland 21201-1559, USA.
Grant W. Montgomery: Genetic Epidemiology, Queensland Institute of Medical Research, The Bancroft Centre, 300 Herston Road, Herston 4006, Queensland, Australia.
Yusuke Nakamura: Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 108-8639, Japan.
Matthias Nauck: Institute of Clinical Chemistry and Laboratory Medicine, Ernst-Moritz-Arndt-University Greifswald, 17475 Greifswald, Germany.
Gerjan Navis: University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
Ute Nöthlings: Section for Epidemiology, Institute for Experimental Medicine, Christian-Albrechts-University Kiel, 24105 Kiel, Germany.
Ilja M. Nolte: Unit of Genetic Epidemiology and Bioinformatics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
David J. Porteous: Centre for Cognitive Ageing and Cognitive Epidemiology, 7 George Square, The University of Edinburgh, Edinburgh EH8 9JZ, UK.
Anneli Pouta: University of Oulu, Aapistie 7, Oulu, 90220 Finland.
Peter P. Pramstaller: Centre for Biomedicine, European Academy Bozen/Bolzano, Viale Druso 1, 39100 Bolzano, Italy.
Janne Pullat: Estonian Genome Center, University of Tartu, Tiigi 61b, 50410 Tartu, Estonia.
Susan M. Ring: MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
Jerome I. Rotter: Medical Genetics Institute, Cedars-Sinai Medical Center
Daniela Ruggiero: Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR, Via P. Castellino 111, 8031 Naples, Italy.
Aimo Ruokonen: Institute of Diagnostics, Clinical Chemistry, University of Oulu, Box 5000Y, University of Oulu, Oulu 90014, Finland.
Cinzia Sala: San Raffaele Scientific Institute
Nilesh J. Samani: University of Leicester, Glenfield Hospital, Groby Road, Leicester LE3 9QP, UK.
Jennifer Sambrook: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
David Schlessinger: Laboratory of Genetics, National Institute on Aging
Stefan Schreiber: Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.
Heribert Schunkert: Universität zu Lübeck
James Scott: Faculty of Medicine, National Heart and Lung Institute, Cardiovascular Science, Hammersmith Campus, Hammersmith Hospital, Imperial College London, London W12 0HS, UK.
Nicholas L. Smith: University of Washington
Harold Snieder: Unit of Genetic Epidemiology and Bioinformatics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
John M. Starr: Centre for Cognitive Ageing and Cognitive Epidemiology, 7 George Square, The University of Edinburgh, Edinburgh EH8 9JZ, UK.
Michael Stumvoll: University of Leipzig, Liebigstr. 18, 04103 Leipzig, Germany.
Atsushi Takahashi: Laboratory for Statistical Analysis, RIKEN Center for Genomic Medicine, Institute of Physical and Chemical Research, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
W. H. Wilson Tang: Center for Cardiovascular Diagnostics and Prevention, Cleveland Clinic, Cleveland, Ohio 44195, USA.
Kent Taylor: Medical Genetics Institute, Cedars-Sinai Medical Center
Albert Tenesa: Institute of Genetics and Molecular Medicine, MRC Human Genetics Unit, Edinburgh EH4 2XU, UK.
Swee Lay Thein: King’s College London, 125 Coldharbour Lane, London SE5 9NU, UK.
Anke Tönjes: University of Leipzig, Liebigstr. 18, 04103 Leipzig, Germany.
Manuela Uda: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.
Sheila Ulivi: Institute for Maternal and Child Health — IRCCS ‘Burlo Garofolo’ — via dell’Istria 65/1, 34137 Trieste, Italy.
Dirk J. van Veldhuisen: University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
Peter M. Visscher: Centre for Cognitive Ageing and Cognitive Epidemiology, 7 George Square, The University of Edinburgh, Edinburgh EH8 9JZ, UK.
Uwe Völker: Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, 17487 Greifswald, Germany.
H.-Erich Wichmann: Institute of Epidemiology I, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr.1, 85764 Neuherberg, Germany.
Kerri L. Wiggins: University of Washington, 1959 Northeast Pacific Street, Seattle, Washington 98195-0001, USA.
Gonneke Willemsen: VU University Amsterdam, De Boelelaan 1105, Van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Tsun-Po Yang: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.
Jing Hua Zhao: MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital, Box 285, Cambridge CB2 0QQ, UK.
Paavo Zitting: Lapland Central Hospital, Rovaniemi, 96101, Finland.
John R. Bradley: NIHR Cambridge Biomedical Research Centre
George V. Dedoussis: Harokopio University, Athens 17671, Greece.
Paolo Gasparini: Institute for Maternal and Child Health — IRCCS ‘Burlo Garofolo’ — via dell’Istria 65/1, 34137 Trieste, Italy.
Stanley L. Hazen: Center for Cardiovascular Diagnostics and Prevention, Cleveland Clinic, Cleveland, Ohio 44195, USA.
Andres Metspalu: Estonian Genome Center, University of Tartu, Tiigi 61b, 50410 Tartu, Estonia.
Mario Pirastu: Institute of Population Genetics, National Council of Research, 07100 Sassari, Italy.
Alan R. Shuldiner: University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, Maryland 21201-1559, USA.
L. Joost van Pelt: University Medical Center Groningen, University of Groningen, 9713 GZ, Groningen, The Netherlands.
Jaap-Jan Zwaginga: Sanquin Research Leiden, Jon J. van Rood Center for Clinical Transfusion research, Leiden University Medical Center, 2333 Leiden, The Netherlands.
Dorret I. Boomsma: VU University Amsterdam, De Boelelaan 1105, Van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Ian J. Deary: Centre for Cognitive Ageing and Cognitive Epidemiology, 7 George Square, The University of Edinburgh, Edinburgh EH8 9JZ, UK.
Andre Franke: Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.
Philippe Froguel: CNRS-UMR-8199, Institut de Biologie de Lille, 1 Rue du Professor Calmette, BP245, 59019 Lille Cedex, France.
Santhi K. Ganesh: University of Michigan Health System, Ann Arbor, Michigan, USA.
Marjo-Riitta Jarvelin: Imperial College London, London W2 1PG, UK.
Nicholas G. Martin: Genetic Epidemiology, Queensland Institute of Medical Research, The Bancroft Centre, 300 Herston Road, Herston 4006, Queensland, Australia.
Christa Meisinger: Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr.1, 85764 Neuherberg, Germany.
Bruce M. Psaty: Group Health Research Institute, Group Health Cooperative
Timothy D. Spector: King’s College London, London SE1 7EH, UK.
Nicholas J. Wareham: MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital, Box 285, Cambridge CB2 0QQ, UK.
Jan-Willem N. Akkerman: University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.
Marina Ciullo: Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR, Via P. Castellino 111, 8031 Naples, Italy.
Panos Deloukas: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.
Andreas Greinacher: Institute for Immunology and Transfusion Medicine, Ernst-Moritz-Arndt-University Greifswald, 17475 Greifswald, Germany.
Steve Jupe: Proteomics Services, EMBL–European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Naoyuki Kamatani: Laboratory for Statistical Analysis, RIKEN Center for Genomic Medicine, Institute of Physical and Chemical Research, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
Jyoti Khadake: Proteomics Services, EMBL–European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Jaspal S. Kooner: Faculty of Medicine, National Heart and Lung Institute, Cardiovascular Science, Hammersmith Campus, Hammersmith Hospital, Imperial College London, London W12 0HS, UK.
Josef Penninger: IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, 1030 Vienna, Austria.
Inga Prokopenko: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
Derek Stemple: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.
Daniela Toniolo: San Raffaele Scientific Institute
Lorenz Wernisch: MRC Biostatistics Unit, Institute of Public Health, University Forvie Site, Robinson Way, Cambridge CB2 0SR, UK.
Serena Sanna: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.
Andrew A. Hicks: Centre for Biomedicine, European Academy Bozen/Bolzano, Viale Druso 1, 39100 Bolzano, Italy.
Augusto Rendon: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Manuel A. Ferreira: Genetic Epidemiology, Queensland Institute of Medical Research, The Bancroft Centre, 300 Herston Road, Herston 4006, Queensland, Australia.
Willem H. Ouwehand: University of Cambridge & NHS Blood and Transplant, Cambridge CB2 0PT, UK.
Nicole Soranzo: Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH/1SA, UK.

Nature, 2011, vol. 480, issue 7376, 201-208

Abstract: Abstract Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function.

Date: 2011
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DOI: 10.1038/nature10659

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