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


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).


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.
Mercuri
F
F
Dipartimento di Scienze e Tecnologie Biomediche, Università degli Studi di Udine, Italy.
Giacomello
R
R
Puglisi
F
F
Colaone
R
R
Fabbro
D
D
Menegon
M G
MG
Ceriello
A
A
Gonano
F
F
Damante
G
G
D000328:Adult; D000483:Alleles; D015331:Cohort Studies; D005165:Factor V / Q000494:pharmacology*; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D010446:Peptide Fragments / Q000097:blood* / Q000187:drug effects* / Q000378:metabolism*; D017354:Point Mutation; D011516:Prothrombin / Q000187:drug effects* / Q000378:metabolism*; D020246:Venous Thrombosis / Q000097:blood* / Q000235:genetics
D010446:Peptide Fragments; C095381:factor V Leiden; C045879:prothrombin fragment 1.2; D005165:Factor V; D011516:Prothrombin