title: Major and potential prothrombotic genotypes in patients with venous thrombosis and in healthy subjects from Slovenia.
abstract: The objective of our study was to investigate the prevalence of the polymorphisms factor V Leiden (FVL), prothrombin G20210A (PT G20210A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), plasminogen activator inhibitor type 1 -675 4G/5G (PAI-1 4G/5G) and factor XII -4 C/T (FXII -4 C/T) in 295 Slovenian patients with venous thrombosis (VT) and 223 healthy controls in order to establish their contribution to the risk for VT. The major genetic risk factor was FVL, while PT G20210A, MTHFR 677 C/T, PAI-1 4G/5G and FXII -4 C/T polymorphisms were not. However, PT G20210A increased the risk of recurrent VT, MTHFR C677T increased the risk in older patients, while the FXII -4 T allele suggested a possible protective effect in younger patients. The risk of VT increased with increasing number of genetic defects.
authors.affiliation: Department of Vascular Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia.
authors.forename: Mateja
authors.initials: M
authors.lastname: Bedencic
authors.forename: Mojca
authors.initials: M
authors.lastname: Bozic
authors.forename: Polona
authors.initials: P
authors.lastname: Peternel
authors.forename: Mojca
authors.initials: M
authors.lastname: Stegnar
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005165:Factor V; D005174:Factor XII; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1; D020641:Polymorphism, Single Nucleotide; D011516:Prothrombin; D012008:Recurrence; D012306:Risk; D017524:Slovenia / Q000453:epidemiology; D019851:Thrombophilia / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005174:Factor XII; D042965:Methylenetetrahydrofolate Reductase (NADPH2)