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

PubWeight™: 2.50‹?› | Rank: Top 2%

🔗 View Article (PMC 2832816)

Published in Blood on December 16, 2009

Authors

Nadia Solovieff1, Jacqueline N Milton, Stephen W Hartley, Richard Sherva, Paola Sebastiani, Daniel A Dworkis, Elizabeth S Klings, Lindsay A Farrer, Melanie E Garrett, Allison Ashley-Koch, Marilyn J Telen, Supan Fucharoen, Shau Yin Ha, Chi-Kong Li, David H K Chui, Clinton T Baldwin, Martin H Steinberg

Author Affiliations

1: Department of Biostatistics, Boston University School of Public Health, MA, USA.

Articles citing this

An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science (2013) 2.71

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet (2010) 2.63

Fetal hemoglobin in sickle cell anemia. Blood (2011) 2.44

Genetic modifiers of sickle cell disease. Am J Hematol (2012) 1.66

Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype. Blood Cells Mol Dis (2013) 1.54

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood (2011) 1.47

Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. Blood (2010) 1.42

Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans. Am J Hematol (2011) 1.26

Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr (2011) 1.24

The complete swine olfactory subgenome: expansion of the olfactory gene repertoire in the pig genome. BMC Genomics (2012) 1.23

Insights into pancreatic cancer etiology from pathway analysis of genome-wide association study data. PLoS One (2012) 1.19

Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans. Blood (2012) 1.12

Emerging science of hydroxyurea therapy for pediatric sickle cell disease. Pediatr Res (2013) 1.03

Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease. Pediatr Blood Cancer (2010) 1.03

Beta-thalassemia: from genotype to phenotype. Haematologica (2011) 1.00

The KMO allele encoding Arg452 is associated with psychotic features in bipolar disorder type 1, and with increased CSF KYNA level and reduced KMO expression. Mol Psychiatry (2013) 0.95

Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models. Circ Cardiovasc Genet (2014) 0.95

Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania. PLoS One (2014) 0.95

Extensive admixture in Brazilian sickle cell patients: implications for the mapping of genetic modifiers. Blood (2011) 0.94

Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon. PLoS One (2014) 0.93

Sequence variation at multiple loci influences red cell hemoglobin concentration. Blood (2010) 0.92

Comparison of DNA methylation profiles in human fetal and adult red blood cell progenitors. Genome Med (2015) 0.91

BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia. Blood Cells Mol Dis (2015) 0.90

Genetic determinants of haemolysis in sickle cell anaemia. Br J Haematol (2013) 0.89

Negative Epistasis between Sickle and Foetal Haemoglobin Suggests a Reduction in Protection against Malaria. PLoS One (2015) 0.88

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants. Nat Commun (2014) 0.88

Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev (2015) 0.87

Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion. Haematologica (2012) 0.86

Genetic modulation of HbF in Brazilians with HbSC disease and sickle cell anemia. Am J Hematol (2013) 0.85

Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea. PLoS One (2013) 0.85

Customizing the genome as therapy for the β-hemoglobinopathies. Blood (2016) 0.85

Homozygous deletion of six olfactory receptor genes in a subset of individuals with Beta-thalassemia. PLoS One (2011) 0.85

Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease. Public Health Genomics (2014) 0.84

Genomic approaches to identifying targets for treating β hemoglobinopathies. BMC Med Genomics (2015) 0.83

Global genetic architecture of an erythroid quantitative trait locus, HMIP-2. Ann Hum Genet (2014) 0.83

Recent advances in β-thalassemias. Pediatr Rep (2011) 0.82

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration. Sci Rep (2016) 0.82

Prothrombin 20210G>A genotype and C-reactive protein level. Blood (2011) 0.81

A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia. Am J Hematol (2014) 0.81

Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. Exp Biol Med (Maywood) (2016) 0.81

Minireview: Multiomic candidate biomarkers for clinical manifestations of sickle cell severity: Early steps to precision medicine. Exp Biol Med (Maywood) (2016) 0.81

Epistatic Interactions between apolipoprotein E and hemoglobin S Genes in regulation of malaria parasitemia. PLoS One (2013) 0.80

Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach. BMC Genomics (2014) 0.80

A genetic score for the prediction of beta-thalassemia severity. Haematologica (2014) 0.80

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer. BMC Med Genet (2015) 0.79

A genome-wide association study of kynurenic acid in cerebrospinal fluid: implications for psychosis and cognitive impairment in bipolar disorder. Mol Psychiatry (2015) 0.79

Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet (2017) 0.78

Fetal hemoglobin reactivation and cell engineering in the treatment of sickle cell anemia. J Blood Med (2011) 0.77

From GWAS to function: lessons from blood cells. ISBT Sci Ser (2015) 0.77

Extensive Admixture and Selective Pressure Across the Sahel Belt. Genome Biol Evol (2015) 0.77

A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia. Am J Hematol (2016) 0.76

Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients. Cardiovasc J Afr (2015) 0.76

Cell signaling pathways involved in drug-mediated fetal hemoglobin induction: Strategies to treat sickle cell disease. Exp Biol Med (Maywood) (2015) 0.76

Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia. Am J Hematol (2016) 0.76

Genome-wide association study suggests common variants within RP11-634B7.4 gene influencing severe pre-treatment pain in head and neck cancer patients. Sci Rep (2016) 0.75

The genetics of hemoglobin A2 regulation in sickle cell anemia. Am J Hematol (2014) 0.75

An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. OMICS (2016) 0.75

Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. Biomed Res Int (2017) 0.75

A phased SNP-based classification of sickle cell anemia HBB haplotypes. BMC Genomics (2017) 0.75

Fetal Hemoglobin in Sickle Cell Anemia: The Arab-Indian Haplotype and New Therapeutic Agents. Am J Hematol (2017) 0.75

Multiple Testing in the Context of Gene Discovery in Sickle Cell Disease Using Genome-Wide Association Studies. Genomics Insights (2017) 0.75

Articles cited by this

PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92

Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) 125.23

Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71

Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol Cell (2002) 11.35

Long human-mouse sequence alignments reveal novel regulatory elements: a reason to sequence the mouse genome. Genome Res (1997) 8.49

Estimation of small percentages of foetal haemoglobin. Nature (1959) 6.73

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (2008) 6.66

The beta-globin nuclear compartment in development and erythroid differentiation. Nat Genet (2003) 5.54

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet (2007) 4.61

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A (2008) 4.46

Locus control regions of mammalian beta-globin gene clusters: combining phylogenetic analyses and experimental results to gain functional insights. Gene (1997) 3.77

A complex chromatin landscape revealed by patterns of nuclease sensitivity and histone modification within the mouse beta-globin locus. Mol Cell Biol (2003) 3.09

Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood (2000) 2.95

Conserved CTCF insulator elements flank the mouse and human beta-globin loci. Mol Cell Biol (2002) 2.69

Distinctive signatures of histone methylation in transcribed coding and noncoding human beta-globin sequences. Mol Cell Biol (2006) 2.68

Fetal hemoglobin in sickle cell anemia: determinants of response to hydroxyurea. Multicenter Study of Hydroxyurea. Blood (1997) 2.55

The beta-globin LCR is not necessary for an open chromatin structure or developmentally regulated transcription of the native mouse beta-globin locus. Mol Cell (1998) 2.22

The locus control region is necessary for gene expression in the human beta-globin locus but not the maintenance of an open chromatin structure in erythroid cells. Mol Cell Biol (1998) 1.99

Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N Engl J Med (1985) 1.90

CTCF-dependent enhancer-blocking by alternative chromatin loop formation. Proc Natl Acad Sci U S A (2008) 1.90

The cooperative study of sickle cell disease: review of study design and objectives. Am J Pediatr Hematol Oncol (1982) 1.85

BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies. Blood Cells Mol Dis (2008) 1.82

Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters. Proc Natl Acad Sci U S A (2000) 1.74

The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood (2007) 1.73

Flanking HS-62.5 and 3' HS1, and regions upstream of the LCR, are not required for beta-globin transcription. Blood (2006) 1.65

Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood (1992) 1.62

cMYB is involved in the regulation of fetal hemoglobin production in adults. Blood (2006) 1.59

Conserved E boxes function as part of the enhancer in hypersensitive site 2 of the beta-globin locus control region. Role of basic helix-loop-helix proteins. J Biol Chem (1997) 1.58

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. Blood (2009) 1.36

Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. Am J Hematol (2010) 1.34

The -158 site 5' to the G gamma gene and G gamma expression. Blood (1985) 1.34

Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J (2007) 1.33

BCL11A represses HBG transcription in K562 cells. Blood Cells Mol Dis (2009) 1.32

An olfactory receptor gene is located in the extended human beta-globin gene cluster and is expressed in erythroid cells. Genomics (1999) 1.28

Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. Blood (2008) 1.28

Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong. Am J Hematol (2008) 1.22

Use of long sequence alignments to study the evolution and regulation of mammalian globin gene clusters. Mol Biol Evol (1993) 1.17

Genetic architecture of hemoglobin F control. Curr Opin Hematol (2009) 1.12

Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations. Am J Hematol (2008) 1.11

Locus control region mediated regulation of adult beta-globin gene expression. J Cell Biochem (2008) 0.99

Pulmonary hypertension of sickle cell disease: more than just another lung disease. Am J Hematol (2008) 0.98

Genomic identification of regulatory elements by evolutionary sequence comparison and functional analysis. Adv Genet (2008) 0.96

Analysis of hemoglobin F production in Saudi Arabian families with sickle cell anemia. Blood (1987) 0.95

An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age. Blood (1995) 0.94

Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin. Eur J Haematol (2005) 0.93

Chromatin remodelling and the interaction between enhancers and promoters in the beta-globin locus. Brief Funct Genomic Proteomic (2004) 0.91

Beta-cluster haplotypes, alpha-gene status, and hematological data from SS, SC, and S-beta-thalassemia patients in southern California. Hemoglobin (1989) 0.90

The relative importance of the X-linked FCP locus and beta-globin haplotypes in determining haemoglobin F levels: a study of SS patients homozygous for beta S haplotypes. Br J Haematol (1997) 0.85

Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study. BMC Med Genet (2010) 0.84

Electronic access to sequence alignments, experimental results, and human mutations as an aid to studying globin gene regulation. Genomics (1998) 0.80

Articles by these authors

Complement factor H polymorphism and age-related macular degeneration. Science (2005) 17.79

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet (2007) 9.80

Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52

Implementing syndromic surveillance: a practical guide informed by the early experience. J Am Med Inform Assoc (2003) 6.75

Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med (2009) 6.43

Protective variant for hippocampal atrophy identified by whole exome sequencing. Ann Neurol (2015) 5.10

Disentangling the roles of disability and morbidity in survival to exceptional old age. Arch Intern Med (2008) 4.77

Airway epithelial gene expression in the diagnostic evaluation of smokers with suspect lung cancer. Nat Med (2007) 4.63

Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes. Blood Rev (2006) 4.46

Retracted Genetic signatures of exceptional longevity in humans. Science (2010) 4.33

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30

Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nat Genet (2005) 4.21

The PhenX Toolkit: get the most from your measures. Am J Epidemiol (2011) 4.19

A treatment protocol for infants younger than 1 year with acute lymphoblastic leukaemia (Interfant-99): an observational study and a multicentre randomised trial. Lancet (2007) 3.94

Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet (2010) 3.91

Cluster analysis of gene expression dynamics. Proc Natl Acad Sci U S A (2002) 3.83

Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat (2002) 3.65

Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet (2007) 3.58

Evolution of adverse changes in stored RBCs. Proc Natl Acad Sci U S A (2007) 3.58

Genetic signatures of exceptional longevity in humans. PLoS One (2012) 3.20

Risk of dementia among white and African American relatives of patients with Alzheimer disease. JAMA (2002) 3.16

Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms. Nature (2004) 2.98

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91

Estimating risk curves for first-degree relatives of patients with Alzheimer's disease: the REVEAL study. Genet Med (2004) 2.82

BET bromodomain inhibition as a novel strategy for reactivation of HIV-1. J Leukoc Biol (2012) 2.80

Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans. Alzheimers Dement (2010) 2.79

Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet (2002) 2.70

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA (2013) 2.58

Definitions of the phenotypic manifestations of sickle cell disease. Am J Hematol (2010) 2.55

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet (2011) 2.51

Fetal hemoglobin in sickle cell anemia. Blood (2011) 2.44

Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial. Genet Med (2004) 2.44

Hepatic gene expression profiles differentiate presymptomatic patients with mild versus severe nonalcoholic fatty liver disease. Hepatology (2013) 2.42

A network model to predict the risk of death in sickle cell disease. Blood (2007) 2.39

Imputation of missing genotypes: an empirical evaluation of IMPUTE. BMC Genet (2008) 2.34

microRNA miR-144 modulates oxidative stress tolerance and associates with anemia severity in sickle cell disease. Blood (2010) 2.34

Pulmonary hypertension associated with sickle cell disease: clinical and laboratory endpoints and disease outcomes. Am J Hematol (2008) 2.32

Health span approximates life span among many supercentenarians: compression of morbidity at the approximate limit of life span. J Gerontol A Biol Sci Med Sci (2012) 2.30

Imatinib after induction for treatment of children and adolescents with Philadelphia-chromosome-positive acute lymphoblastic leukaemia (EsPhALL): a randomised, open-label, intergroup study. Lancet Oncol (2012) 2.29

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res (2004) 2.24

An official American Thoracic Society clinical practice guideline: diagnosis, risk stratification, and management of pulmonary hypertension of sickle cell disease. Am J Respir Crit Care Med (2014) 2.23

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat (2007) 2.22

Reversible and permanent effects of tobacco smoke exposure on airway epithelial gene expression. Genome Biol (2007) 2.20

Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemia. Blood (2009) 2.20

Fetal hemoglobin in sickle cell anemia: a glass half full? Blood (2013) 2.19

Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. Arthritis Rheum (2013) 2.17

Interaction of FKBP5 with childhood adversity on risk for post-traumatic stress disorder. Neuropsychopharmacology (2010) 2.16

Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol (2003) 2.14

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron (2013) 2.13

Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08

Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine, and new research directions. Am J Hematol (2009) 2.05

N-terminal pro-brain natriuretic peptide levels and risk of death in sickle cell disease. JAMA (2006) 2.04

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Ann Neurol (2011) 2.01

Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord (2005) 1.99

Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol. Hum Mol Genet (2008) 1.98

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol (2012) 1.97

Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev (2010) 1.96

Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. Hum Hered (2005) 1.86

Hemolysis-associated priapism in sickle cell disease. Blood (2005) 1.86

Effects of environmental stress and gender on associations among symptoms of depression and the serotonin transporter gene linked polymorphic region (5-HTTLPR). Behav Genet (2007) 1.84

Performance of random forest when SNPs are in linkage disequilibrium. BMC Bioinformatics (2009) 1.81

Human metapneumovirus detection in patients with severe acute respiratory syndrome. Emerg Infect Dis (2003) 1.81

Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease. Alzheimer Dis Assoc Disord (2003) 1.79

Diabetes mellitus and risk of developing Alzheimer disease: results from the Framingham Study. Arch Neurol (2006) 1.78

Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence. Biol Psychiatry (2011) 1.76

Relationship between methylome and transcriptome in patients with nonalcoholic fatty liver disease. Gastroenterology (2013) 1.75