Background and Objectives. A simple approach to understanding molecular mechanisms leading to thrombosis is the definition of how genetic factors influence biochemical parameters of coagulation. Conflicting data have been reported regarding the role and the genotype of factor V plays in the control of plasma F1+2 levels. The aim of this study was to test whether the factor V Leiden mutation affects F1+2 levels. Design and Methods. We studied the effect of factor V Leiden mutation (detected by the polymerase chain reaction technique) on plasma F1+2 levels in 418 normal subjects and 39 subjects affected by deep venous thrombosis. Results. In both normal subjects and those with venous thrombosis, heterozygotes for the Leiden mutation showed significantly higher plasma levels of F1+2 (p<0.0001 and p<0.005, respectively). Subjects with venous thrombosis had a higher allelic frequency of the Leiden mutation than normal subjects (11.5% and 3.1%, respectively). Interpretation and Conclusions. The results indicate that the genotype of factor V is a determinant of plasma F1+2 concentration. The allelic frequency of Leiden mutation in our normal subjects is higher than that found in other Italian populations but similar to that reported for populations of north- and middle-Europe. This finding is consistent with the peculiar ancestry and history of Friuli (the area in which subjects for this study were recruited), with respect to other Italian regions

Factor V leiden increases plasma F1+2 levels both in normal and deep venous thrombosis subjects.

GIACOMELLO, Roberta;PUGLISI, Fabio;GONANO, Fabio;DAMANTE, Giuseppe
2000-01-01

Abstract

Background and Objectives. A simple approach to understanding molecular mechanisms leading to thrombosis is the definition of how genetic factors influence biochemical parameters of coagulation. Conflicting data have been reported regarding the role and the genotype of factor V plays in the control of plasma F1+2 levels. The aim of this study was to test whether the factor V Leiden mutation affects F1+2 levels. Design and Methods. We studied the effect of factor V Leiden mutation (detected by the polymerase chain reaction technique) on plasma F1+2 levels in 418 normal subjects and 39 subjects affected by deep venous thrombosis. Results. In both normal subjects and those with venous thrombosis, heterozygotes for the Leiden mutation showed significantly higher plasma levels of F1+2 (p<0.0001 and p<0.005, respectively). Subjects with venous thrombosis had a higher allelic frequency of the Leiden mutation than normal subjects (11.5% and 3.1%, respectively). Interpretation and Conclusions. The results indicate that the genotype of factor V is a determinant of plasma F1+2 concentration. The allelic frequency of Leiden mutation in our normal subjects is higher than that found in other Italian populations but similar to that reported for populations of north- and middle-Europe. This finding is consistent with the peculiar ancestry and history of Friuli (the area in which subjects for this study were recruited), with respect to other Italian regions
File in questo prodotto:
File Dimensione Formato  
Mercuri et al__Puglisi__Haematologica 2000.pdf

non disponibili

Tipologia: Versione Editoriale (PDF)
Licenza: Non pubblico
Dimensione 122.66 kB
Formato Adobe PDF
122.66 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11390/880971
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 5
  • ???jsp.display-item.citation.isi??? 5
social impact