Evidence map›Paper›PMID 25703683›Full record

ArticleBlood cells, molecules & diseases2015

BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.

P Sebastiani, J J Farrell, A Alsultan, S Wang, H L Edward, H Shappell, H Bae, J N Milton, C T Baldwin, A M Al-Rubaish and 10 more

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In one paragraph

Article in Blood cells, molecules & diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
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  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Unique Polymorphisms atJournal of personalized medicine · 2021
    Article
  12. Review
  13. Article
  14. Article
  15. Omics Studies in Hemoglobinopathies.Molecular diagnosis & therapy · 2019
    Review
  16. Article
  17. Article
  18. Article
  19. Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 6 institutions in 3 countries.

P SebastianiDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, United States. Electronic address: sebas@bu.edu.
J J FarrellDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
A AlsultanSickle Cell Disease Research Center and Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
S WangDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, United States.
H L EdwardDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
H ShappellDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, United States.
H BaeCollege of Public Health and Human Sciences, Oregon State University, Corvallis, OR, United States.
J N MiltonDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, United States.
C T BaldwinDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
A M Al-RubaishDepartment of Internal Medicine, College of Medicine, University of Dammam, Dammam, Saudi Arabia.
Z NaserullahDepartment of Pediatrics, Maternity & Child Hospital, Dammam, Saudi Arabia.
F Al-MuhannaDepartment of Internal Medicine, College of Medicine, University of Dammam, Dammam, Saudi Arabia.
A AlsulimanDepartment of Hematology, King Fahd Hospital, Hafof, Al-Ahsa, Saudi Arabia.
P K PatraDeptartment of Biochemistry, Pt. J.N.M. Medical College, Raipur, Chattisgarh, India.
L A FarrerDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
D NgoDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
V VathipadiekalDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
D H K ChuiDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
A K Al-AliPrince Mohammed Center for Research & Consultation Studies, University of Dammam, Dammam, Saudi Arabia.
M H SteinbergDepartment of Medicine, Boston University School of Medicine, Boston, MA, United States.
Boston University · USImam Abdulrahman Bin Faisal University · SAKing Saud University · SAMaternity and Children's Hospital · SAOregon State University · USPt. Jawahar Lal Nehru Memorial Medical College · IN

Funding

Globin Gene Expression in Sickle Cell Genotype-Specific iPS cellsU01HL107443 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI CHUI, DAVID H K, MOSTOSLAVSKY, GUSTAVO · 2011 to 2015
$8.3M
Genetic Modulation of Sickle Cell DiseaseR01HL068970 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2001 to 2010
$7.0M
Genome-Wide Association Studies in Sickle Cell Anemia and in CentenariansR01HL087681 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2007 to 2010
$6.0M
RESEARCH TRAINING IN BLOOD DISEASES AND RESOURCEST32HL007501 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LERNER, ADAM, STEINBERG, MARTIN H. · 1985 to 2018
$5.4M
Interdisciplinary Training for BiostatisticiansT32GM074905 · NIGMS · BOSTON UNIVERSITY MEDICAL CAMPUS · PI WHITE, LAURA FORSBERG · 2005 to 2019
$3.0M
Genetic Diversity of Sickle Cell AnemiaRC2HL101212 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2009 to 2010
$3.0M
NHLBI NIH HHS 5 T32 HL007501NHLBI NIH HHS HL068970NHLBI NIH HHS HL101212NHLBI NIH HHS HL87681NHLBI NIH HHS R01 HL068970NHLBI NIH HHS R01 HL087681NHLBI NIH HHS RC2 HL101212NHLBI NIH HHS T32 HL007501NHLBI NIH HHS U01 HL107443NIGMS NIH HHS T32 GM074905NIGMS NIH HHS T32 GM74905
6 · The paper itself

Abstract

backgroundFetal hemoglobin (HbF) levels in sickle cell anemia patients vary. We genotyped polymorphisms in the erythroid-specific enhancer of BCL11A to see if they might account for the very high HbF associated with the Arab-Indian (AI) haplotype and Benin haplotype of sickle cell anemia. METHODS AND

resultsSix BCL112A enhancer SNPs and their haplotypes were studied in Saudi Arabs from the Eastern Province and Indian patients with AI haplotype (HbF ~20%), African Americans (HbF ~7%), and Saudi Arabs from the Southwestern Province (HbF ~12%). Four SNPs (rs1427407, rs6706648, rs6738440, and rs7606173) and their haplotypes were consistently associated with HbF levels. The distributions of haplotypes differ in the 3 cohorts but not their genetic effects: the haplotype TCAG was associated with the lowest HbF level and the haplotype GTAC was associated with the highest HbF level and differences in HbF levels between carriers of these haplotypes in all cohorts were approximately 6%.

conclusionsCommon HbF BCL11A enhancer haplotypes in patients with African origin and AI sickle cell anemia have similar effects on HbF but they do not explain their differences in HbF.

Indexed as

Polymorphism, Single NucleotideAdolescentAdultAnemia, Sickle CellArabsAsian PeopleBlack or African AmericanCarrier ProteinsChildFemaleFetal HemoglobinGenotypeHaplotypesHumansMaleMiddle AgedBCL11A protein, humanCarrier ProteinsFetal HemoglobinNuclear ProteinsRepressor ProteinsGenetic associationHaplotype analysisHemoglobinSickle cell disease

Identifiers

PMID25703683
PMCPMC4341902
OpenAlexW2044485538

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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.