ArticleBlood2012
Influence of single nucleotide polymorphisms in factor VIII and von Willebrand factor genes on plasma factor VIII activity: the ARIC Study.
Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.Proceedings of the National Academy of Sciences of the United States of America · 2013Pooled 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
- Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.Journal of thrombosis and haemostasis : JTH · 2020Article
- The commonBlood advances · 2018Article
- Association of Single Nucleotide Polymorphisms in the ST3GAL4 Gene with VWF Antigen and Factor VIII Activity.PloS one · 2016Article
- Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.Journal of thrombosis and haemostasis : JTH · 2015Article
- Article
- ABO blood group polymorphisms and risk for ischemic stroke and peripheral arterial disease.Molecular biology reports · 2014Article
- Association of vWA and TPOX polymorphisms with venous thrombosis in Mexican mestizos.BioMed research international · 2014Article
- Article
- High factor VIII, von Willebrand factor, and fibrinogen levels and risk of venous thromboembolism in blacks and whites.Ethnicity & disease · 2014Article
- Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.Journal of thrombosis and haemostasis : JTH · 2013Article
- On the versatility of von Willebrand factor.Mediterranean journal of hematology and infectious diseases · 2013Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
Factor VIII (FVIII) functions as a cofactor for factor IXa in the contact coagulation pathway and circulates in a protective complex with von Willebrand factor (VWF). Plasma FVIII activity is strongly influenced by environmental and genetic factors through VWF-dependent and -independent mechanisms. Single nucleotide polymorphisms (SNPs) of the coding and promoter sequence in the FVIII gene have been extensively studied for effects on FVIII synthesis, secretion, and activity, but impacts of non-disease-causing intronic SNPs remain largely unknown. We analyzed FVIII SNPs and FVIII activity in 10,434 healthy Americans of European (EA) or African (AA) descent in the Atherosclerosis Risk in Communities (ARIC) study. Among covariates, age, race, diabetes, and ABO contributed 2.2%, 3.5%, 4%, and 10.7% to FVIII intersubject variation, respectively. Four intronic FVIII SNPs associated with FVIII activity and 8 with FVIII-VWF ratio in a sex- and race-dependent manner. The FVIII haplotypes AT and GCTTTT also associated with FVIII activity. Seven VWF SNPs were associated with FVIII activity in EA subjects, but no FVIII SNPs were associated with VWF Ag. These data demonstrate that intronic SNPs could directly or indirectly influence intersubject variation of FVIII activity. Further investigation may reveal novel mechanisms of regulating FVIII expression and activity.
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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.