Background: Venous thromboembolism (VTE) is a complex disease and several inherited and acquired factors are relevant to its occurrence. Among these, an elevated level of plasma coagulation factor VIII (FVIII) is an established risk factor for VTE; copy number variations (CNVs) have also been discovered to be associated with many diseases.
Objective: To explore the proposed association between CNV of the F8 gene and the risk of VTE.
Methods: A case-control study including 179 VTE patients and 176 healthy individuals were enrolled in this study. Activity of plasma factor VIII was measured. Genomic DNA was extracted for subsequent quantitative real-time PCR analysis of CNVs of the F8 gene.
Results: Plasma factor VIII levels were significantly higher in VTE patients than in healthy controls (251% vs. 99%, p<0.01). Copy number of the F8 gene in VTE patients was significantly higher than in healthy controls. (male: p=6.1×10(-14), OR=12, 95%CI: 6.0-25; female: p=4.3×10(-10), OR=9.5, 95%CI: 4.5-20). Plasma factor VIII levels in the samples with high copies of the F8 gene were higher than in those individuals with normal copy number (male: p=0.023; female: p=0.036).
Conclusions: Amplification of the F8 gene copy number seems to enhance factor VIII activity and was associated with VTE.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.bcmd.2013.01.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The effect of coagulation traits on the risk of retinal vein occlusion: a mendelian randomization study.
Sci Rep
January 2025
Department of Ophthalmology, The Second Hospital of Jilin University, #218 Ziqiang Street, Changchun, 130041, Jilin, China.
Retinal vein occlusion (RVO) is the leading cause of vision loss due to an obstruction in the retinal venous system. While RVO is often linked to thrombotic tendencies and coagulation abnormalities, the exact role of coagulation traits in its development is not fully understood. This study aims to investigate the potential causal relationship between coagulation traits and the risk of RVO by analyzing publicly available genome-wide association study (GWAS) summary statistics.
View Article and Find Full Text PDFMETTL14-mediated depression of NEIL1 aggravates oxidative damage and mitochondrial dysfunction of lens epithelial cells through regulating KEAP1/NRF2 pathways.
Cell Signal
January 2025
Eye Institute, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong 226001, China. Electronic address:
Abnormal base excision repair (BER) pathway and N6-methyladenosine (m6A) of RNA have been proved to be significantly related to age-related cataract (ARC) pathogenesis. However, the relationship between the Nei Endonuclease VIII-Like1 (NEIL1) gene (a representative DNA glycosylase of BER pathway) and its m6A modification remains unclear. Here, we showed that the expression of NEIL1 was decreased in the ARC anterior lens capsules and HO-stimulated SRA01/04 cells.
View Article and Find Full Text PDFDesmopressin (DDAVP) can be used to prevent or stop bleeding. However, large inter-individual variability is observed in DDAVP response and determinants are largely unknown. In this systematic review and meta-analysis we aim to identify the response to DDAVP, and the factors that determine DDAVP response in patients.
View Article and Find Full Text PDFA 5-year Single-center Experience on the Use of Emicizumab Prophylaxis in Children With Severe Hemophilia A With and Without Factor VIII Inhibitors.
J Pediatr Hematol Oncol
January 2025
Department of Paediatric Haematology, NHS Foundation Trust, Birmingham Children's Hospital, Birmingham, UK.
Objective: Emicizumab promotes efficacious hemostasis in persons with hemophilia A persons with hemophilia A with and without inhibitors. Primary analyses of real-world data and clinical trials have shown emicizumab efficacy and safety; however, long-term data are limited.
Methods: This retrospective study was conducted to assess real-world long-term outcomes of pediatric patients on emicizumab in our hemophilia center between the period of February 2018 and September 2023.
Flow Cytometry Evaluation of Blood-Cell-Bound Surface FVIII in Hemophilia A and Thrombosis.
Cells
January 2025
Research Department, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Hemophilia A (HA) is associated with FVIII coagulation insufficiency or inactivity leading to excessive bleeding. Elevated FVIII, on the contrary, is associated with thrombophilia, thrombosis, myocardial infarctions, and stroke. Active FVIII (aFVIII) uses its C2 domain to bind to blood cells' membranes, consequently carrying out its coagulative function.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!