ArticleBlood2013
Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis 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
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Genetic Contribution to Asthma Informs Acute Chest Syndrome Pathophysiology and Risk Stratification.American journal of hematology · 2026Article
- Epigenetic Regulation of Erythropoiesis: From Developmental Programs to Therapeutic Targets.International journal of molecular sciences · 2025Review
- Genetic Modifiers Associated with Vaso-Occlusive Crises and Acute Pain Phenomena in Sickle Cell Disease: A Scoping Review.International journal of molecular sciences · 2025Article
- Auditory Neuropathy Spectrum Disorder in Individuals with Sickle Cell Anemia: Case Study.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2024Article
- Single nucleotide polymorphisms and sickle cell disease-related pain: a systematic review.Frontiers in pain research (Lausanne, Switzerland) · 2023Review
- 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
- Comparison of the clinical course of COVID-19 infection in sickle cell disease patients with healthcare professionals.Annals of hematology · 2021Article
- A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.Blood advances · 2021Article
- CRISPR-edited megakaryocytes for rapid screening of platelet gene functions.Blood advances · 2021Article
- Biomarker signatures of sickle cell disease severity.Blood cells, molecules & diseases · 2018Article
- Sickle Cell Anemia and Its Phenotypes.Annual review of genomics and human genetics · 2018Review
- Functional Genomics for the Identification of Modulators of Platelet-Dependent Thrombus Formation.TH open : companion journal to thrombosis and haemostasis · 2018Review
- Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon.British journal of haematology · 2018Article
- Acute Chest Syndrome in Children with Sickle Cell Disease.Pediatric allergy, immunology, and pulmonology · 2017Review
- Article
- Multiple Testing in the Context of Gene Discovery in Sickle Cell Disease Using Genome-Wide Association Studies.Genomics insights · 2017Article
- An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine.Omics : a journal of integrative biology · 2016Review
- The intersection between asthma and acute chest syndrome in children with sickle-cell anaemia.Lancet (London, England) · 2016Review
- Minireview: Genetic basis of heterogeneity and severity in sickle cell disease.Experimental biology and medicine (Maywood, N.J.) · 2016Review
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Patients with sickle cell disease (SCD) present with a wide range of clinical complications. Understanding this clinical heterogeneity offers the prospects to tailor the right treatments to the right patients and also guide the development of novel therapies. Several environmental (eg, nutrition) and nonenvironmental (eg, fetal hemoglobin levels, α-thalassemia status) factors are known to modify SCD severity. To find new genetic modifiers of SCD severity, we performed a gene-centric association study in 1514 African American participants from the Cooperative Study of Sickle Cell Disease (CSSCD) for acute chest syndrome (ACS) and painful crisis. From the initial results, we selected 36 single nucleotide polymorphism (SNPs) and genotyped them for replication in 387 independent patients from the CSSCD, 318 SCD patients recruited at Georgia Health Sciences University, and 449 patients from the Duke SCD cohort. In the combined analysis, an association between ACS and rs6141803 reached array-wide significance (P = 4.1 × 10(-7)). This SNP is located 8.2 kilobases upstream of COMMD7, a gene highly expressed in the lung that interacts with nuclear factor-κB signaling. Our results provide new leads to gaining a better understanding of clinical variability in SCD, a "simple" monogenic disease.
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Registered trials
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