ArticleScience (New York, N.Y.)2013
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.
Article in Science (New York, N.Y.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 394 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
394 citing papers in PubMed, 3 syntheses or guidelines pooled it, 650 citations in OpenAlex.
- Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.Nature communications · 2025Pooled it
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- New Insights Into Pathophysiology of β-Thalassemia.Frontiers in medicine · 2022Pooled it
- Zinc finger nuclease-mediated gene editing in hematopoietic stem cells results in reactivation of fetal hemoglobin in sickle cell disease.Scientific reports · 2024Trial
- Comparing bulk and single-cell methodologies and models to profile gene expression, chromatin accessibility and regulatory links in endothelial cells treated with TNFα.Biochemistry and biophysics reports · 2026Article
- CRISPR-HAWK: haplotype- and variant-aware guide design toolkit for CRISPR-Cas.Bioinformatics (Oxford, England) · 2026Article
- Article
- Direct and indirect regulation of fetal globin transcript by the RNA-binding protein IGF2BP1.Blood · 2026Article
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- Beyond chemotherapy: The rise of nucleic acid nanoformulations in personalized lung cancer therapy.Cancer pathogenesis and therapy · 2026Review
- Research Progress on Hemoglobin Expression in Non-Erythroid Cells and Tumor Cells.Journal of cellular physiology · 2026Review
- Engineered lipid nanoparticles for in vivo and durable editing of haematopoietic stem cells within humanized mice.Nature biomedical engineering · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Mapping enhancer-gene regulatory interactions from single-cell data.Nature genetics · 2026Article
- Engineered ADARs enable precision A-to-G base editing of DNA.Nature biotechnology · 2026Article
- Thalassaemia.Nature reviews. Disease primers · 2026Review
- Natural History of Chronic Kidney Disease in Sickle Cell Disease.American journal of hematology · 2026Review
- Gene Therapy for β-Haemoglobinopathies: From Molecular Correction to Curative Medicine.Biomedicines · 2026Review
- PGC-1α agonism via oral administration of ZLN005 induces fetal hemoglobin and is antisickling in sickle mice.Blood advances · 2026Article
- BCL11A and HBS1L-MYB polymorphisms, in association with hydroxyurea and sex, modulate fetal hemoglobin levels in individuals with sickle cell anemia in the western region of Bahia, Brazil.Molecular biology reports · 2026Article
334 more citing papers are in PubMed but not listed here.
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18 authors at 7 institutions in 1 country.
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Abstract
Genome-wide association studies (GWASs) have ascertained numerous trait-associated common genetic variants, frequently localized to regulatory DNA. We found that common genetic variation at BCL11A associated with fetal hemoglobin (HbF) level lies in noncoding sequences decorated by an erythroid enhancer chromatin signature. Fine-mapping uncovers a motif-disrupting common variant associated with reduced transcription factor (TF) binding, modestly diminished BCL11A expression, and elevated HbF. The surrounding sequences function in vivo as a developmental stage-specific, lineage-restricted enhancer. Genome engineering reveals the enhancer is required in erythroid but not B-lymphoid cells for BCL11A expression. These findings illustrate how GWASs may expose functional variants of modest impact within causal elements essential for appropriate gene expression. We propose the GWAS-marked BCL11A enhancer represents an attractive target for therapeutic genome engineering for the β-hemoglobinopathies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.