Submitted May 31, 2007
Accepted August 11, 2007
The HBS1L - MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans
Stephan Menzel, Jie Jiang, Nicholas Silver, Joy Gallagher, Juliette Cunningham, Gabriela Surdulescu, Mark Lathrop, Martin Farrall, Tim D Spector, and Swee Lay Thein*
Division of Gene and Cell Based Therapy, King's College London School of Medicine, London, United Kingdom
Department of Haematological Medicine, King's College Hospital, London, United Kingdom
Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, United Kingdom
Centre National de Génotypage, Institut Genomique, Commissariat a l'Energie Atomique, Evry, France
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
* Corresponding author; email: sl.thein{at}kcl.ac.uk.
Common sequence variants situated between the HBS1L and MYB genes on chromosome 6q23.3 (HMIP) influence the proportion of F cells (erythrocytes that carry measurable amounts of fetal hemoglobin). Since the physiological processes underlying the F-cell variability are thought to be linked to kinetics of erythrocyte maturation and differentiation, we have investigated the influence of the HMIP locus on other hematological parameters. Here we show a significant impact of HMIP variability on several types of peripheral blood cells: erythrocyte, platelet and monocyte counts as well as erythrocyte volume and hemoglobin content in healthy individuals of European ancestry. These results support the notion that changes of F-cell abundance can be an indicator of more general shifts in hematopoietic patterns in humans.
