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

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

Author information

1
Montreal Heart Institute, Montréal, Québec, Canada.

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.

PMID:
21057501
PMCID:
PMC3740938
DOI:
10.1038/ng.707
[Indexed for MEDLINE]
Free PMC Article

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