Trial reportBlood2013
Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.
Trial report in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers, 2 of them syntheses that pooled 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.
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
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.British journal of haematology · 2023Pooled it
- Hydroxycarbamide versus chronic transfusion for maintenance of transcranial doppler flow velocities in children with sickle cell anaemia-TCD With Transfusions Changing to Hydroxyurea (TWiTCH): a multicentre, open-label, phase 3, non-inferiority trial.Lancet (London, England) · 2016Trial
- Current insights into PHF14: molecular features and functional roles.Frontiers in molecular biosciences · 2026Review
- Article
- Genetic Modifiers of Stroke in Patients with Sickle Cell Disease-A Scoping Review.International journal of molecular sciences · 2024Article
- Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease.Current research in translational medicine · 2024Article
- Comparative transcriptomic analysis of circulating endothelial cells in sickle cell stroke.Annals of hematology · 2024Article
- ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.Annual review of pathology · 2024Review
- From Stress to Sick(le) and Back Again-Oxidative/Antioxidant Mechanisms, Genetic Modulation, and Cerebrovascular Disease in Children with Sickle Cell Anemia.Antioxidants (Basel, Switzerland) · 2023Review
- Precision Medicine and Sickle Cell Disease.HemaSphere · 2022Review
- The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.International journal of molecular sciences · 2022Review
- Nonsynonymous amino acid changes in the α-chain of complement component 5 influence longitudinal susceptibility toFrontiers in genetics · 2022Article
- A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.Blood advances · 2021Article
- Techniques for the Detection of Sickle Cell Disease: A Review.Micromachines · 2021Review
- Genetic modifiers of long-term survival in sickle cell anemia.Clinical and translational medicine · 2020Article
- A Novel 65-bp Indel in theAnimals : an open access journal from MDPI · 2020Article
- End points for sickle cell disease clinical trials: patient-reported outcomes, pain, and the brain.Blood advances · 2019Article
- Association Mapping Based on a Common-Garden Migration Experiment Reveals Candidate Genes for Migration Tendency in Brown Trout.G3 (Bethesda, Md.) · 2019Article
- Sickle Cell Anemia and Its Phenotypes.Annual review of genomics and human genetics · 2018Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Stroke is a devastating complication of sickle cell anemia (SCA), occurring in 11% of patients before age 20 years. Previous studies of sibling pairs have demonstrated a genetic component to the development of cerebrovascular disease in SCA, but few candidate genetic modifiers have been validated as having a substantial effect on stroke risk. We performed an unbiased whole-genome search for genetic modifiers of stroke risk in SCA. Genome-wide association studies were performed using genotype data from single-nucleotide polymorphism arrays, whereas a pooled DNA approach was used to perform whole-exome sequencing. In combination, 22 nonsynonymous variants were identified and represent key candidates for further in-depth study. To validate the association of these mutations with the risk for stroke, the 22 candidate variants were genotyped in an independent cohort of control patients (n = 231) and patients with stroke (n = 57) with SCA. One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having significant associations with a decreased risk for stroke. These mutations were discovered and validated by an unbiased whole-genome approach, and future studies will focus on how these functional mutations may lead to protection from stroke in the context of SCA.
Indexed as
Identifiers
What 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.