title: Frequency of prothrombotic risk factors in patients with deep venous thrombosis and controls: their implications for thrombophilia screening in Chilean subjects.
abstract: In this work, we evaluated the frequency of prothrombotic defects associated with deep venous thrombosis (DVT) in southern Chilean subjects. A total of 261 individuals, 87 patients with DVT confirmed by Doppler ultrasonography and 174 controls, were included in this study. Factor V and factor VIII levels, activated protein C (APC) resistance, and lupus anticoagulant detection were assayed by clotting methods. Basal homocysteine was quantified by immunoassay, and the polymorphisms in factor V (F5), methylenetetrahydrofolate reductase (MTHFR), and cystathionine β-synthase (CBS) genes were genotyped by molecular methods. The most frequent defects were APC resistance, hyperhomocysteinemia, and increased levels of factor VIII. We observed a complete absence of the F5 G1691A variant in the studied population, and the frequency of MTHFR C677T polymorphism was significantly different between patients and controls (odds ratio = 3.2; 95% confidence interval, 1.513-6.735; p = 0.016). In addition, subjects carrying the homozygous MTHFR 677TT genotype exhibited higher levels of plasma homocysteine. Our data suggest that the APC resistance is the most important defect in Chilean patients with DVT. However, this phenotype is not associated with the presence of the F5 G1691A variant. In addition, only MTHFR C677T polymorphism constituted a molecular biomarker of DVT in Chilean population.
authors: Departamento de Ciencias Básicas, Facultad de Medicina, Universidad de La Frontera, Temuco, Chile.
authors: Neftalí
authors: N
authors: Guzmán
authors: Luis A
authors: LA
authors: Salazar
mesh_terms: D020016:Activated Protein C Resistance / Q000453:epidemiology / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002677:Chile / Q000453:epidemiology; D003541:Cystathionine beta-Synthase / Q000235:genetics; D005165:Factor V / Q000235:genetics; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020138:Hyperhomocysteinemia / Q000453:epidemiology / Q000235:genetics; D016682:Lupus Coagulation Inhibitor / Q000032:analysis; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D019851:Thrombophilia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D014463:Ultrasonography; D020246:Venous Thrombosis / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D055815:Young Adult
chemical_list: D016682:Lupus Coagulation Inhibitor; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005169:Factor VIII; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase