Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
Nature genetics, 2010•nature.com
We used resequencing and genotyping in African Americans with sickle cell anemia (SCA)
to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB
and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven
SNPs with independent effects and increased the explained heritable variation in HbF levels
from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB
in HbF production.
to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB
and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven
SNPs with independent effects and increased the explained heritable variation in HbF levels
from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB
in HbF production.
Abstract
We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production.
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