[Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis].
BACKGROUND
Factor V Leiden and G20210A mutation of prothrombin gene are two important genetic polymorphisms associated with an increased risk for thrombosis.


OBJECTIVE
To establish the prevalence of factor V Leiden and prothrombin G20210A mutation in the Chilean population and their association to venous and arterial thromboembolism.


METHODS
A case-control study was conducted where 149 patients with thrombosis (87 with arterial and 62 with venous thrombosis) confirmed by CAT-scan, electrocardiogram and cardiac enzymes or Doppler depending on the case, and 160 healthy blood donors were genetically analyzed for the presence of both polymorphisms.


RESULTS
Factor V Leiden mutation was found in 5.4% of patients and in 1.3% of healthy controls (p=0.04). Heterozygosity for G20210A prothrombin mutation was found in 5.4% of patients and in 2.5% of the control group (p=NS). When arterial and venous thrombosis were considered as separate entities, 4.6% of patients with arterial thrombosis and 6.5% with venous thrombosis presented factor V Leiden (p=NS). Likewise, 8.1% of patients with venous thrombosis and 3.5% of patients with arterial thrombosis had G20210A prothrombin mutation (p=NS).


CONCLUSIONS
In non selected consecutive Chilean patients with arterial and venous thrombosis the frequency of factor V Leiden and prothrombin G20210A is less than we could expect from their prevalence in the general population.
Palomo
Iván
I
Departamento de Bioquímica Clínica e Inmunohematología, Facultad de Ciencias de la Salud, Universidad de Talca. ipalomo@utalca.cl
Pereira
Jaime
J
Alarcón
Marcelo
M
Pinochet
Carmen
C
Vélez
María T
MT
Hidalgo
Patricia
P
Skagerberg
Karin
K
Poblete
Fernando
F
D016022:Case-Control Studies; D002677:Chile / Q000453:epidemiology; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D013927:Thrombosis / Q000453:epidemiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin