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Prevalence of a 23bp insertion in exon 3 of the endothelial cell protein C receptor gene in venous thrombophilia.
- Source :
-
Thrombosis and haemostasis [Thromb Haemost] 2001 Dec; Vol. 86 (6), pp. 1360-2. - Publication Year :
- 2001
-
Abstract
- Background: The endothelial cell protein C receptor (EPCR) enhances protein C activation by the thrombin-thrombomodulin complex. As evidence is accumulating that EPCR is an important component of the protein C anticoagulant pathway, polymorphisms in the EPCR gene might be candidate risk factors predisposing to venous thromboembolism (VTE). Recently, a 23bp insertion in exon 3 of the EPCR gene has been identified, which duplicates the preceding 23 bases and results in a STOP codon downstream from the insertion point. However, the clinical significance of this mutation in VTE remains to be clarified.<br />Methods and Results: In this study we evaluated the EPCR 23bp insertion in 889 patients with documented VTE and in 500 healthy controls. The prevalence of the EPCR insertion among patients was 0.1%, which was not significantly different compared to controls (0.6%, p = 0.1).<br />Conclusions: Our findings showed that the EPCR 23bp insertion is very rare in both patients with VTE and the general population and failed to support an association between the EPCR 23bp insertion and an increased risk of VTE.
- Subjects :
- Adult
DNA Mutational Analysis
Female
Gene Frequency
Germany epidemiology
Humans
Intracranial Thrombosis epidemiology
Intracranial Thrombosis genetics
Male
Middle Aged
Polymorphism, Genetic
Pulmonary Embolism epidemiology
Pulmonary Embolism genetics
Receptors, Cell Surface physiology
Retinal Vein Occlusion epidemiology
Retinal Vein Occlusion genetics
Risk Factors
Thromboembolism epidemiology
Thrombophilia epidemiology
Thrombophlebitis epidemiology
Thrombophlebitis genetics
Venous Thrombosis epidemiology
White People genetics
Blood Coagulation Factors
Exons genetics
Mutagenesis, Insertional
Receptors, Cell Surface genetics
Thromboembolism genetics
Thrombophilia genetics
Venous Thrombosis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-6245
- Volume :
- 86
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Thrombosis and haemostasis
- Publication Type :
- Academic Journal
- Accession number :
- 11776299