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

doi:10.1038/ng.707

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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...

Topics

Black or African American
Anemia, Sickle Cell
Base Sequence
Fetal Hemoglobin
Genetic Loci
Genome, Human
Humans
Mutation, Missense
Physical Chromosome Mapping
Polymorphism, Single Nucleotide

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PMID: 21057501
DOI: 10.1038/ng.707
PMCID: PMC3740938

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