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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-10-20
pubmed:abstractText
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 ?-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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1945-0257
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
599-602
pubmed:meshHeading
pubmed-meshheading:20707729-Activated Protein C Resistance, pubmed-meshheading:20707729-Adolescent, pubmed-meshheading:20707729-Adult, pubmed-meshheading:20707729-Aged, pubmed-meshheading:20707729-Chile, pubmed-meshheading:20707729-Cystathionine beta-Synthase, pubmed-meshheading:20707729-Factor V, pubmed-meshheading:20707729-Factor VIII, pubmed-meshheading:20707729-Female, pubmed-meshheading:20707729-Gene Frequency, pubmed-meshheading:20707729-Genetic Predisposition to Disease, pubmed-meshheading:20707729-Genotype, pubmed-meshheading:20707729-Humans, pubmed-meshheading:20707729-Hyperhomocysteinemia, pubmed-meshheading:20707729-Lupus Coagulation Inhibitor, pubmed-meshheading:20707729-Male, pubmed-meshheading:20707729-Methylenetetrahydrofolate Reductase (NADPH2), pubmed-meshheading:20707729-Middle Aged, pubmed-meshheading:20707729-Mutation, Missense, pubmed-meshheading:20707729-Phenotype, pubmed-meshheading:20707729-Prothrombin, pubmed-meshheading:20707729-Risk Factors, pubmed-meshheading:20707729-Thrombophilia, pubmed-meshheading:20707729-Venous Thrombosis, pubmed-meshheading:20707729-Young Adult
pubmed:year
2010
pubmed:articleTitle
Frequency of prothrombotic risk factors in patients with deep venous thrombosis and controls: their implications for thrombophilia screening in Chilean subjects.
pubmed:affiliation
Departamento de Ciencias Básicas, Facultad de Medicina, Universidad de La Frontera, Temuco, Chile.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't