A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

Nicole Soranzo, Tim D Spector, Massimo Mangino, Brigitte Kühnel, Augusto Rendon, Alexander Teumer, Christina Willenborg, Benjamin Wright, Li Chen, Mingyao Li, Perttu Salo, Benjamin F Voight, Philippa Burns, Roman A Laskowski, Yali Xue, Stephan Menzel, David Altshuler, John R Bradley, Suzannah Bumpstead, Mary-Susan Burnett, Joseph Devaney, Angela Döring, Roberto Elosua, Stephen E Epstein, Wendy Erber, Mario Falchi, Stephen F Garner, Mohammed J R Ghori, Alison H Goodall, Rhian Gwilliam, Hakon H Hakonarson, Alistair S Hall, Naomi Hammond, Christian Hengstenberg, Thomas Illig, Inke R König, Christopher W Knouff, Ruth McPherson, Olle Melander, Vincent Mooser, Matthias Nauck, Markku S Nieminen, Christopher J O'Donnell, Leena Peltonen, Simon C Potter, Holger Prokisch, Daniel J Rader, Catherine M Rice, Robert Roberts, Veikko Salomaa, Jennifer Sambrook, Stefan Schreiber, Heribert Schunkert, Stephen M Schwartz, Jovana Serbanovic-Canic, Juha Sinisalo, David S Siscovick, Klaus Stark, Ida Surakka, Jonathan Stephens, John R Thompson, Uwe Völker, Henry Völzke, Nicholas A Watkins, George A Wells, H-Erich Wichmann, David A Van Heel, Chris Tyler-Smith, Swee Lay Thein, Sekar Kathiresan, Markus Perola, Muredach P Reilly, Alexandre F R Stewart, Jeanette Erdmann, Nilesh J Samani, Christa Meisinger, Andreas Greinacher, Panos Deloukas, Willem H Ouwehand, Christian Gieger
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Nature genetics
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The number and volume of cells in the blood affect a wide range of disorders including cancer and cardiovascular, metabolic, infectious and immune conditions. We consider here the genetic variation in eight clinically relevant hematological parameters, including hemoglobin levels, red and white blood cell counts and platelet counts and volume. We describe common variants within 22 genetic loci reproducibly associated with these hematological parameters in 13,943 samples from six European population-based studies, including 6 associated with red blood cell parameters, 15 associated with platelet parameters and 1 associated with total white blood cell count. We further identified a long-range haplotype at 12q24 associated with coronary artery disease and myocardial infarction in 9,479 cases and 10,527 controls. We show that this haplotype demonstrates extensive disease pleiotropy, as it contains known risk loci for type 1 diabetes, hypertension and celiac disease and has been spread by a selective sweep specific to European and geographically nearby populations.