Evidence map›Paper›PMID 39518961›Full record

SynthesisInternational journal of molecular sciences2024

Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.

Coralea Stephanou, Stephan Menzel, Sjaak Philipsen, Petros Kountouris, International Hemoglobinopathy Research Network (INHERENT)

Abstract readSystematic Review
In one paragraph

Synthesis in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Alterations of Plasma Metabolites Associated with Sickle Cell Trait.Clinical journal of the American Society of Nephrology : CJASN · 2026
    Article
  4. Review
  5. Article
  6. Article
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

5 authors.

Coralea StephanouMolecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.ORCID 0000-0002-2546-6478
Stephan MenzelSchool of Cancer & Pharmaceutical Sciences, King's College London, London SE5 9NU, UK.
Sjaak PhilipsenDepartment of Cell Biology, Erasmus MC, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0002-3690-1201
Petros KountourisMolecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.ORCID 0000-0003-2681-4355
International Hemoglobinopathy Research Network (INHERENT)

Funding

European Cooperation in Science and Technology CA22119European Union EU Horizon Europe Pathfinder EdiGenT (101070903)Netherlands Organisation for Health Research and Development ZonMW PSIDER consortium TRACER (10250022110001)NWO Applied and Engineering Sciences Open Technology Programme 18947TKI Health Holland EMCLSH20025
6 · The paper itself

Abstract

Elevated fetal hemoglobin (HbF), which is partly controlled by genetic modifiers, ameliorates disease severity in β hemoglobinopathies. Understanding the genetic basis of this trait holds great promise for personalized therapeutic approaches. PubMed, MedRxiv, and the GWAS Catalog were searched up to May 2024 to identify eligible GWAS studies following PRISMA guidelines. Four independent reviewers screened, extracted, and synthesized data using narrative and descriptive methods. Study quality was assessed using a modified version of the Q-Genie tool. Pathway enrichment analysis was conducted on gene lists derived from the selected GWAS studies. Out of 113 initially screened studies, 62 underwent full-text review, and 16 met the inclusion criteria for quality assessment and data synthesis. A total of 939 significant SNP-trait associations (

Indexed as

Fetal HemoglobinGenome-Wide Association StudyHumansPolymorphism, Single NucleotideFetal Hemoglobinbeta thalassemiaF cellsfetal hemoglobin (HbF)genetic modifierGWASsickle cell disease (SCD)SNPsystematic review

Identifiers

PMID39518961
PMCPMC11546522

What OpenQuestion holds

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Registered trials

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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.