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

Soranzo, Nicole and Spector, Tim D. and Mangino, Massimo and Kuehnel, Brigitte and Rendon, Augusto and Teumer, Alexander and Willenborg, Christina and Wright, Benjamin and Chen, Li and Li, Mingyao and Salo, Perttu and Voight, Benjamin F. and Burns, Philippa and Laskowski, Roman A. and Xue, Yali and Menzel, Stephan and Altshuler, David and Bradley, John R. and Bumpstead, Suzannah and Burnett, Mary-Susan and Devaney, Joseph and Doering, Angela and Elosua, Roberto and Epstein, Stephen E. and Erber, Wendy and Falchi, Mario and Garner, Stephen F. and Ghori, Mohammed J. R. and Goodall, Alison H. and Gwilliam, Rhian and Hakonarson, Hakon H. and Hall, Alistair S. and Hammond, Naomi and Hengstenberg, Christian and Illig, Thomas and Koenig, Inke R. and Knouff, Christopher W. and McPherson, Ruth and Melander, Olle and Mooser, Vincent and Nauck, Matthias and Nieminen, Markku S. and O'Donnell, Christopher J. and Peltonen, Leena and Potter, Simon C. and Prokisch, Holger and Rader, Daniel J. and Rice, Catherine M. and Roberts, Robert and Salomaa, Veikko and Sambrook, Jennifer and Schreiber, Stefan and Schunkert, Heribert and Schwartz, Stephen M. and Serbanovic-Canic, Jovana and Sinisalo, Juha and Siscovick, David S. and Stark, Klaus and Surakka, Ida and Stephens, Jonathan and Thompson, John R. and Voelker, Uwe and Voelzke, Henry and Watkins, Nicholas A. and Wells, George A. and Wichmann, H-Erich and Van Heel, David A. and Tyler-Smith, Chris and Thein, Swee Lay and Kathiresan, Sekar and Perola, Markus and Reilly, Muredach P. and Stewart, Alexandre F. R. and Erdmann, Jeanette and Samani, Nilesh J. and Meisinger, Christa and Greinacher, Andreas and Deloukas, Panos and Ouwehand, Willem H. and Gieger, Christian (2009) A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. NATURE GENETICS, 41 (11). 1182-U38. ISSN 1061-4036, 1546-1718

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: CORONARY-HEART-DISEASE; MEAN PLATELET VOLUME; MYOCARDIAL-INFARCTION; COMMON VARIANTS; NOONAN-SYNDROME; RISK; GENE; EXPRESSION; MUTATIONS; SELECTION;
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Innere Medizin II
Depositing User: Dr. Gernot Deinzer
Date Deposited: 02 Sep 2020 13:51
Last Modified: 02 Sep 2020 13:51
URI: https://pred.uni-regensburg.de/id/eprint/28222

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