; Spector, Tim D. ; Mangino, Massimo ; Kühnel, Brigitte ; Rendon, Augusto
; Teumer, Alexander ; Willenborg, Christina
; Wright, Benjamin ; Chen, Li ; Li, Mingyao ; Salo, Perttu ; Voight, Benjamin F. ; Burns, Philippa ; Laskowski, Roman A.
; Xue, Yali ; Menzel, Stephan
; Altshuler, David
; Bradley, John R.
; Bumpstead, Suzannah ; Burnett, Mary-Susan ; Devaney, Joseph ; Döring, Angela ; Elosua, Roberto ; Epstein, Stephen E. ; Erber, Wendy
; Falchi, Mario
; Garner, Stephen F. ; Ghori, Mohammed J. R. ; Goodall, Alison H.
; Gwilliam, Rhian ; Hakonarson, Hakon H. ; Hall, Alistair S.
; Hammond, Naomi ; Hengstenberg, Christian ; Illig, Thomas ; König, Inke R. ; Knouff, Christopher W. ; McPherson, Ruth ; Melander, Olle ; Mooser, Vincent ; Nauck, Matthias ; Nieminen, Markku S. ; O'Donnell, Christopher J. ; Peltonen, Leena ; Potter, Simon C. ; Prokisch, Holger
; Rader, Daniel J. ; Rice, Catherine M. ; Roberts, Robert ; Salomaa, Veikko ; Sambrook, Jennifer ; Schreiber, Stefan
; Schunkert, Heribert ; Schwartz, Stephen M. ; Serbanovic-Canic, Jovana
; Sinisalo, Juha
; Siscovick, David S. ; Stark, Klaus
; Surakka, Ida ; Stephens, Jonathan ; Thompson, John R. ; Völker, Uwe ; Völzke, Henry ; Watkins, Nicholas A. ; Wells, George A.
; Wichmann, H.-Erich ; Van Heel, David A. ; Tyler-Smith, Chris ; Thein, Swee Lay ; Kathiresan, Sekar ; Perola, Markus
; Reilly, Muredach P.
; Stewart, Alexandre F. R.
; Erdmann, Jeanette
; Samani, Nilesh J. ; Meisinger, Christa
; Greinacher, Andreas ; Deloukas, Panos
; Ouwehand, Willem H.
; Gieger, Christian 
| Item type: | Article | ||||
|---|---|---|---|---|---|
| Journal or Publication Title: | Nature Genetics | ||||
| Publisher: | NATURE PUBLISHING GROUP | ||||
| Place of Publication: | NEW YORK | ||||
| Volume: | 41 | ||||
| Number of Issue or Book Chapter: | 11 | ||||
| Page Range: | pp. 1182-1190 | ||||
| Date: | 2009 | ||||
| Institutions: | Medicine > Lehrstuhl für Innere Medizin II | ||||
| Identification Number: |
| ||||
| Keywords: | CORONARY-HEART-DISEASE; MEAN PLATELET VOLUME; MYOCARDIAL-INFARCTION; COMMON VARIANTS; NOONAN-SYNDROME; RISK; GENE; EXPRESSION; MUTATIONS; SELECTION | ||||
| Dewey Decimal Classification: | 600 Technology > 610 Medical sciences Medicine | ||||
| Status: | Published | ||||
| Refereed: | Yes, this version has been refereed | ||||
| Created at the University of Regensburg: | Partially | ||||
| Item ID: | 66816 |
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 ...

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.
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