Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster Academic Article uri icon

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  • In a genome-wide association study of 848 blacks with sickle cell anemia, we identified single nucleotide polymorphisms (SNPs) associated with fetal hemoglobin concentration. The most significant SNPs in a discovery sample were tested in a replication set of 305 blacks with sickle cell anemia and in subjects with hemoglobin E or beta thalassemia trait from Thailand and Hong Kong. A novel region on chromosome 11 containing olfactory receptor genes OR51B5 and OR51B6 was identified by 6 SNPs (lowest P = 4.7E-08) and validated in the replication set. An additional olfactory receptor gene, OR51B2, was identified by a novel SNP set enrichment analysis. Genome-wide association studies also validated a previously identified SNP (rs766432) in BCL11A, a gene known to affect fetal hemoglobin levels (P = 2.6E-21) and in Thailand and Hong Kong subjects. Elements within the olfactory receptor gene cluster might play a regulatory role in gamma-globin gene expression.


  • Solovieff, N
  • Milton, JN
  • Hartley, SW
  • Sherva, R
  • Sebastiani, P
  • Dworkis, DA
  • Klings, ES
  • Farrer, LA
  • Garrett, ME
  • Ashley-Koch, A
  • Telen, MJ
  • Fucharoen, S
  • Ha, SY
  • Li, C-K
  • Chui, David Hing-kwei
  • Baldwin, CT
  • Steinberg, MH

publication date

  • March 4, 2010

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