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

Blood. 2010 Mar 4;115(9):1815-22. doi: 10.1182/blood-2009-08-239517. Epub 2009 Dec 16.

Abstract

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.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / blood*
  • Anemia, Sickle Cell / genetics*
  • Black or African American / genetics
  • Carrier Proteins / genetics
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 11 / genetics
  • Chromosomes, Human, X / genetics
  • Female
  • Fetal Hemoglobin / genetics*
  • Fetal Hemoglobin / metabolism*
  • Genome-Wide Association Study
  • Hemoglobin E / genetics
  • Hong Kong
  • Humans
  • Male
  • Multigene Family*
  • Nuclear Proteins / genetics
  • Polymorphism, Single Nucleotide*
  • Receptors, Odorant / genetics*
  • Regulatory Sequences, Nucleic Acid
  • Repressor Proteins
  • Thailand
  • Young Adult
  • beta-Thalassemia / genetics

Substances

  • BCL11A protein, human
  • Carrier Proteins
  • Nuclear Proteins
  • Receptors, Odorant
  • Repressor Proteins
  • Hemoglobin E
  • Fetal Hemoglobin