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  • Title: Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
    Author: Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G.
    Journal: Nat Genet; 2010 Dec; 42(12):1049-51. PubMed ID: 21057501.
    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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