Trial reportBlood2007
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.
Trial report in Blood, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis 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
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- Pooled it
- Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.American journal of hematology · 2015Trial
- Historical review: more than two decades understanding the genetic architecture of hemostasis and thrombosis.Journal of thrombosis and haemostasis : JTH · 2026Review
- Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.Research and practice in thrombosis and haemostasis · 2025Article
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Anti-FVIII antibodies in Black and White hemophilia A subjects: do F8 haplotypes play a role?Blood advances · 2023Article
- The Role of Biomarkers, Metabolomics, and COVID-19 in Venous Thromboembolism-A Review of Literature.International journal of molecular sciences · 2023Review
- A novel mechanism underlying allosteric regulation of ADAMTS-13 revealed by hydrogen-deuterium exchange plus mass spectrometry.Research and practice in thrombosis and haemostasis · 2023Article
- FVIII regulates the molecular profile of endothelial cells: functional impact on the blood barrier and macrophage behavior.Cellular and molecular life sciences : CMLS · 2022Article
- Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.Molecular genetics & genomic medicine · 2021Article
- Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.Research and practice in thrombosis and haemostasis · 2020Article
- Intronic regions of theHeliyon · 2020Article
- From Classical Laboratory Parameters to Novel Biomarkers for the Diagnosis of Venous Thrombosis.International journal of molecular sciences · 2020Review
- Factor VIII: Perspectives on Immunogenicity and Tolerogenic Strategies.Frontiers in immunology · 2019Review
- Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project.Haemophilia : the official journal of the World Federation of Hemophilia · 2018Review
- Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.Blood advances · 2017Article
- Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.Journal of clinical medicine research · 2017Article
- Engineering less immunogenic and antigenic FVIII proteins.Cellular immunology · 2016Review
- The Central Role of KNG1 Gene as a Genetic Determinant of Coagulation Pathway-Related Traits: Exploring Metaphenotypes.PloS one · 2016Article
- Complexity and diversity of F8 genetic variations in the 1000 genomes.Journal of thrombosis and haemostasis : JTH · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 4 institutions in 3 countries.
Funding
Abstract
Plasma factor VIII coagulant activity (FVIII:C) level is a highly heritable quantitative trait that is strongly correlated with thrombosis risk. Polymorphisms within only 1 gene, the ABO blood-group locus, have been unequivocally demonstrated to contribute to the broad population variability observed for this trait. Because less than 2.5% of the structural FVIII gene (F8) has been examined previously, we resequenced all known functional regions in 222 potentially distinct alleles from 137 unrelated nonhemophilic individuals representing 7 racial groups. Eighteen of the 47 variants identified, including 17 single-nucleotide polymorphisms (SNPs), were previously unknown. As the degree of linkage disequilibrium across F8 was weak overall, we used measured-genotype association analysis to evaluate the influence of each polymorphism on the FVIII:C levels in 398 subjects from 21 pedigrees known as the Genetic Analysis of Idiopathic Thrombophilia project (GAIT). Our results suggested that 92714C>G, a nonsynonymous SNP encoding the B-domain substitution D1241E, was significantly associated with FVIII:C level. After accounting for important covariates, including age and ABO genotype, the association persisted with each C-allele additively increasing the FVIII:C level by 14.3 IU dL(-1) (P = .016). Nevertheless, because the alleles of 56010G>A, a SNP within the 3' splice junction of intron 7, are strongly associated with 92714C>G in GAIT, additional studies are required to determine whether D1241E is itself a functional variant.
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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.