The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans

Author:

Menzel Stephan1,Jiang Jie1,Silver Nicholas1,Gallagher Joy2,Cunningham Juliette1,Surdulescu Gabriela3,Lathrop Mark4,Farrall Martin5,Spector Tim D.3,Thein Swee Lay12

Affiliation:

1. King's College London School of Medicine, Division of Gene and Cell Based Therapy, London, United Kingdom;

2. King's College Hospital, Department of Haematological Medicine, London, United Kingdom;

3. King's College London School of Medicine, Division of Genetics and Molecular Medicine, London, United Kingdom;

4. Centre National de Génotypage, Institut Génomique, Commissariat à l'Energie Atomique, Evry, France;

5. Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom

Abstract

Abstract 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 hematologic 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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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