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

Geneviève Galarneau, Cameron D. Palmer, Vijay G. Sankaran, Stuart H. Orkin, Joel N. Hirschhorn, Guillaume Lettre

Research output: Contribution to journalArticlepeer-review

211 Scopus citations

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 Î 2-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.

Original languageEnglish
Pages (from-to)1049-1051
Number of pages3
JournalNature Genetics
Volume42
Issue number12
DOIs
StatePublished - Dec 2010
Externally publishedYes

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