ArticleGenomics insights2009
Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
Article in Genomics insights, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 4 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
54 citing papers in PubMed, 4 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease.The Cochrane database of systematic reviews · 2021Pooled it
- Association of Sickle Cell Trait With Ischemic Stroke Among African Americans: A Meta-analysis.JAMA neurology · 2018Pooled it
- Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease.The Cochrane database of systematic reviews · 2015Pooled it
- Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.PloS one · 2013Pooled it
- Frequent red cell transfusions reduced vascular endothelial activation and thrombogenicity in children with sickle cell anemia and high stroke risk.American journal of hematology · 2014Trial
- IL10 (-1082 G>A, rs1800896) gene polymorphisms are associated with oxidative stress in sickle cell disease patients in Uganda.Biological research · 2025Article
- Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.International journal of molecular sciences · 2025Article
- The role of nucleation in sickle cell pathophysiology: opportunities for innovative treatments.Annals of medicine and surgery (2012) · 2025Review
- Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster β, BCL11A, and HBS1L-MYB. Pilot study.Frontiers in medicine · 2025Article
- Genomics-driven drug repurposing and novel targets identification for sickle cell disease in Saudi patients.Frontiers in bioinformatics · 2025Article
- Rare Comorbidity of Sickle Cell Disease and Wilms' Tumor: A Case Report.Case reports in medicine · 2025Article
- Circulating biomarkers associated with pediatric sickle cell disease.Frontiers in molecular biosciences · 2024Article
- Modulation of Heme-Induced Inflammation Using MicroRNA-Loaded Liposomes: Implications for Hemolytic Disorders Such as Malaria and Sickle Cell Disease.International journal of molecular sciences · 2023Article
- Stratification of βAntioxidants (Basel, Switzerland) · 2023Article
- Sickle Cell Hemoglobin Genotypes Affect Malaria Parasite Growth and Correlate with Exosomal miR-451a and let-7i-5p Levels.International journal of molecular sciences · 2023Article
- Outcomes of Pregnancy in Sickle Cell Disease Patients: Results from the Prospective ESCORT-HU Cohort Study.Biomedicines · 2023Article
- Infrastructure for bioinformatics applications in Tanzania: Lessons from the Sickle Cell Programme.PLoS computational biology · 2023Article
- The Optimized γ-Globin Lentiviral Vector GGHI-mB-3D Leads to Nearly Therapeutic HbF Levels In Vitro in CD34Viruses · 2022Article
- Article
- A cortactin CTTN coding SNP contributes to lung vascular permeability and inflammatory disease severity in African descent subjects.Translational research : the journal of laboratory and clinical medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
More than half a century after the discovery of the molecular basis of Sickle Cell Disease (SCD), the causes of the phenotypic heterogeneity of the disease remain unclear. This heterogeneity manifests with different clinical outcomes such as stroke, vaso-occlusive episodes, acute chest syndrome, avascular necrosis, leg ulcers, priapism and retinopathy. These outcomes cannot be explained by the single mutation in the beta-globin gene alone but may be attributed to genetic modifiers and environmental effects. Recent advances in the post human genome sequence era have opened the door for the identification of novel genetic modifiers in SCD. Studies are showing that phenotypes of SCD seem to be modulated by polymorphisms in genes that are involved in inflammation, cell-cell interaction and modulators of oxidant injury and nitric oxide biology. The discovery of genes implicated in different phenotypes will help understanding of the physiopathology of the disease and aid in establishing targeted cures. However, caution is needed in asserting that genetic modifiers are the cause of all SCD phenotypes, because there are other factors such as genetic background of the population, environmental components, socio-economics and psychology that can play significant roles in the clinical heterogeneity.
Identifiers
20401335PMC2855197W1933659309What OpenQuestion holds
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.