Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
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ABSTRACT:
SUBMITTER: Galarneau G
PROVIDER: S-EPMC3740938 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Publications
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
Galarneau Geneviève G Palmer Cameron D CD Sankaran Vijay G VG Orkin Stuart H SH Hirschhorn Joel N JN Lettre Guillaume G
Nature genetics 20101107 12
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. ...[more]
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