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Curr Opin Genet Dev DOI:10.1016/j.gde.2013.02.006

Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis.

Publication TypeJournal Article
Year of Publication2013
AuthorsSankaran, VG, Orkin, SH
JournalCurr Opin Genet Dev
Date Published2013 Jun
KeywordsBlood Platelets, Erythroid Cells, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Hematologic Diseases, Hematopoiesis, Humans, Phenotype

The study of human hematopoiesis is often limited by the inability to manipulate this process in vivo and differences that exist between humans and commonly employed model organisms. However, human genetics provides a way to gain insight into natural variation in a variety of hematologic phenotypes and creates an opportunity to better understand hematopoiesis. In this review, we discuss how genome-wide association studies are revealing common genetic variation that is associated with hematologic traits and diseases. We discuss how the resulting insight from these studies promises to increase our understanding of human hematopoiesis and outline the challenges that lay ahead in this field.


Alternate JournalCurr. Opin. Genet. Dev.
PubMed ID23477921
PubMed Central IDPMC4711360
Grant ListT32 HL007574 / HL / NHLBI NIH HHS / United States
R01 HL032259 / HL / NHLBI NIH HHS / United States
P01 HL032262 / HL / NHLBI NIH HHS / United States
T32 HL007574-30 / HL / NHLBI NIH HHS / United States
/ / Howard Hughes Medical Institute / United States
HL32259 / HL / NHLBI NIH HHS / United States
HL32262 / HL / NHLBI NIH HHS / United States