BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of beta-thalassemia major and sickle cell anemia. Recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in BCL11A gene on chromosome 2p16.1 were correlated with F-cells among healthy northern Europeans, and HbF among Sardinians with beta-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia. Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A.
Sedgewick
Amanda E
AE
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Timofeev
Nadia
N
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Sebastiani
Paola
P
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
So
Jason C C
JCC
Department of Pathology, the University of Hong Kong Faculty of Medicine, and Queen Mary Hospital, Hong Kong, China.
Ma
Edmond S K
ESK
Department of Pathology, the University of Hong Kong Faculty of Medicine, and Queen Mary Hospital, Hong Kong, China.
Chan
Li Chong
LC
Department of Pathology, the University of Hong Kong Faculty of Medicine, and Queen Mary Hospital, Hong Kong, China.
Fucharoen
Goonnapa
G
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Fucharoen
Supan
S
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Barbosa
Cynara G
CG
Division of Hematology/Oncology, Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
Vardarajan
Badri N
BN
Genetics Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
Farrer
Lindsay A
LA
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.|Genetics Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.|Departments of Neurology, Genetics & Genomics, and Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.
Baldwin
Clinton T
CT
Genetics Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.|Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, USA.
Steinberg
Martin H
MH
Division of Hematology/Oncology, Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
Chui
David H K
DHK
Division of Hematology/Oncology, Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
D001741:Black or African American / Q000235:genetics; D000755:Anemia, Sickle Cell / Q000235:genetics / Q000378:metabolism; D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D005319:Fetal Hemoglobin / Q000235:genetics* / Q000378:metabolism; D006453:Hemoglobinopathies / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007438:Introns; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D012097:Repressor Proteins; D013785:Thailand; D017086:beta-Thalassemia / Q000235:genetics / Q000378:metabolism
C486563:BCL11A protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D005319:Fetal Hemoglobin