The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans.
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.
Menzel
Stephan
S
King's College London School of Medicine, Division of Gene and Cell Based Therapy, London, United Kingdom.
Jiang
Jie
J
Silver
Nicholas
N
Gallagher
Joy
J
Cunningham
Juliette
J
Surdulescu
Gabriela
G
Lathrop
Mark
M
Farrall
Martin
M
Spector
Tim D
TD
Thein
Swee Lay
SL
D001772:Blood Cell Count; D001792:Blood Platelets / Q000166:cytology*; D002896:Chromosomes, Human, Pair 6 / Q000737:chemistry; D021901:DNA, Intergenic / Q000502:physiology*; D004912:Erythrocytes / Q000166:cytology*; D005260:Female; D020570:Genes, myb; D006801:Humans; D008297:Male; D009000:Monocytes / Q000166:cytology*; D020648:Peptide Elongation Factor 1 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D021901:DNA, Intergenic; D020648:Peptide Elongation Factor 1