title: From genome-wide association study hits to new insights into experimental hematology.
abstract: Despite significant improvements in our knowledge of the mechanisms of normal and pathological hematopoiesis, our current understanding is most likely an oversimplification of the complexity of regulatory networks at play. Thus, considerable efforts have been made to catalogue the total sum of germline alterations in individual genomes affecting human hematopoiesis. These efforts ultimately led to the discovery of a large number of new genes not previously implicated in blood formation. Although identification of novel genes is important in revealing the profiles of genetic variations associated with normal hematopoiesis, further functional studies are necessary to improve our understanding of the mechanism(s) involved in these processes. In this review, we summarize the knowledge gained from genome-wide association studies to elucidate the relationship between genetics and blood cell traits. We discuss the most important recent advances, with an emphasis on functional follow-up studies that have been particularly useful in providing an insight into novel regulatory processes that influence blood cell formation and function. We also discuss potential future directions and challenges in the field.
authors.affiliation: Department of Haematology, University of Cambridge, UK; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Electronic address: as889@cam.ac.uk.
authors.forename: Ana
authors.initials: A
authors.lastname: Cvejic
mesh_terms: D001792:Blood Platelets / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics; D004912:Erythrocytes / Q000378:metabolism; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006405:Hematology; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins
chemical_list: C486563:BCL11A protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins