[Genetic determinants of hereditary thrombophilia in pathogenesis of venous thrombosis].
OBJECTIVE
To study the role of genetic determinants of hereditary thrombophilia in pathogenesis of various clinical manifestations of venous thrombosis in the citizens of the North-West Region of Russia.


METHODS
Mutations of the genes of factor V (FV Leiden), prothrombin (G20210-A) and polymorphism C677-T in the gene of methylentetrahydrofolate reductase (MTHFR) were detected using polymerase chain reaction (PCR) with a following restriction analysis of PCR product in 183 patients with venous thrombosis (115 with isolated thrombosis of the deep veins and 68 with thromboembolism of the pulmonary artery).


RESULTS
It was established that mutation FV Leiden is a significant risk factor of deep vein thrombosis in the legs and postthrombotic disease, but this mutation is weakly associated with pulmonary artery thromboembolism (PAT). An essential PAT risk factor is carriage of the variant prothrombin G20210A.


CONCLUSIONS
Determination of prothrombotic genotypes is a key factor of treatment efficacy and prevention of life-threatening thromboembolic complications.
Kapustin
S I
SI
Blinov
M N
MN
Kargin
V D
VD
Filanovskaia
L I
LI
Saltykova
N B
NB
Beliazo
O E
OE
Golovina
O G
OG
Shmeleva
V M
VM
Panshina
A M
AM
Papaian
L P
LP
D000293:Adolescent; D000328:Adult; D000368:Aged; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)