Article
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
Nature genetics - 1 Dec 2010
Galarneau Geneviève, Palmer Cameron D, Sankaran Vijay G, Orkin Stuart H, Hirschhorn Joel N, Lettre Guillaume
Abstract excerpt
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...
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