Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

Nat Genet. 2010 Dec;42(12):1049-51. doi: 10.1038/ng.707. Epub 2010 Nov 7.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • African Americans / genetics
  • Anemia, Sickle Cell / genetics
  • Base Sequence
  • Fetal Hemoglobin / genetics*
  • Genetic Loci / genetics*
  • Genome, Human / genetics
  • Humans
  • Mutation, Missense / genetics
  • Physical Chromosome Mapping / methods*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Fetal Hemoglobin