F. Mercuri et al., Factor V Leiden increases plasma F1+2 levels both in normal and deep venous thrombosis subjects, HAEMATOLOG, 85(4), 2000, pp. 386-389
Background and Objectives. A simple approach to understanding molecular mec
hanisms leading to thrombosis is the definition of how genetic factors infl
uence biochemical parameters of coagulation. conflicting data have been rep
orted regarding the that the genotype of factor V plays in the control of p
lasma F1+2 levels. The aim of this study was test whether the factor V Leld
en mutation affects F1+2 levels.
Design and Methods. We studied the effect of factor V Lelden mutation (dete
cted by the polymerase chain reaction technique) on plasma F1+2 levels In 4
18 normal subjects and 39 subjects affected by deep venous thrombosis.
Results. In both normal subjects and those with venous thrombosis, heterozy
gotes 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 fee frequency of the Leiden mutation than normal subje
cts (11.5% and 3.1%, respectively),
Interpretation and Conclusion. The results indicate that the genotype of fa
ctor V Is a determinant of plasma F1+2 concentration. The allelic frequency
or Leiden mutation in our normal subjects is higher than that found in oth
er Italian populations but similar to that reported ibr populations of nort
h- and middle-Europe. This finding is consistent with the peculiar ancestry
and history of Friuli (the area in which subjects for this study were recr
uited), with respect to other Italian regions. (C)2000, Ferrata Storti Foun
dation.