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

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.

SUBMITTER: Galarneau G 

PROVIDER: S-EPMC3740938 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature