Skip to main content

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

Publication ,  Journal Article
Solovieff, N; Milton, JN; Hartley, SW; Sherva, R; Sebastiani, P; Dworkis, DA; Klings, ES; Farrer, LA; Garrett, ME; Ashley-Koch, A; Telen, MJ ...
Published in: Blood
March 4, 2010

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.

Duke Scholars

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

March 4, 2010

Volume

115

Issue

9

Start / End Page

1815 / 1822

Location

United States

Related Subject Headings

  • beta-Thalassemia
  • Young Adult
  • Thailand
  • Repressor Proteins
  • Regulatory Sequences, Nucleic Acid
  • Receptors, Odorant
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins
  • Multigene Family
  • Male
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Solovieff, N., Milton, J. N., Hartley, S. W., Sherva, R., Sebastiani, P., Dworkis, D. A., … Steinberg, M. H. (2010). Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. Blood, 115(9), 1815–1822. https://doi.org/10.1182/blood-2009-08-239517
Solovieff, Nadia, Jacqueline N. Milton, Stephen W. Hartley, Richard Sherva, Paola Sebastiani, Daniel A. Dworkis, Elizabeth S. Klings, et al. “Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.Blood 115, no. 9 (March 4, 2010): 1815–22. https://doi.org/10.1182/blood-2009-08-239517.
Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, et al. 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.
Solovieff, Nadia, et al. “Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.Blood, vol. 115, no. 9, Mar. 2010, pp. 1815–22. Pubmed, doi:10.1182/blood-2009-08-239517.
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 DHK, Baldwin CT, Steinberg MH. 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):1815–1822.

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

March 4, 2010

Volume

115

Issue

9

Start / End Page

1815 / 1822

Location

United States

Related Subject Headings

  • beta-Thalassemia
  • Young Adult
  • Thailand
  • Repressor Proteins
  • Regulatory Sequences, Nucleic Acid
  • Receptors, Odorant
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins
  • Multigene Family
  • Male