Document Detail

Genetic polymorphisms associated with acute pulmonary embolism and deep venous thrombosis.
MedLine Citation:
PMID:  12570104     Owner:  NLM     Status:  MEDLINE    
Frequently an inherited predisposition to thrombosis remains clinically silent until an additional environmental factor intervenes. The present study aimed to assess distribution of inherited risk factors of venous thrombosis in patients with venous thromboembolism (VTE). The prevalences of factor V Leiden (FV Leiden), prothrombin factor II G20210A (FII G20210A), C677T and A1298C of methylenetetrahydrofolate reductase (MTHFR) mutations were studied in 149 VTE patients and 100 controls. The following key risks were established: previous deep venous thrombosis or pulmonary embolism (23.5%), bed rest (34.2%), immobilisation of lower limb (10.1%), hospitalisation (30.9%) and obesity (28.9%). In 29 (19%) patients and in three (3%) controls FV Leiden was found. A significant association between VTE and FV Leiden was established. There were six (4%) carriers of the FII G20210A among VTE patients and one in the controls. No associations between VTE and MTHFR polymorphisms (C677T, A1298C) were found. In three of 149 patients both FV Leiden and FII G20210A polymorphisms were observed. The mean protein C activity was slightly, though nonsignificantly, smaller in VTE patients. In conclusion, there was a positive association between venous thromboembolism and factor V Leiden. Only a weak trend favouring a relationship between prothrombin factor II G20210A and venous thrombolism was present. No associations between common polymorphisms of methylenetetrahydrofolate reductase and venous thromboembolism were found.
E Nizankowska-Mogilnicka; L Adamek; P Grzanka; T B Domagala; M Sanak; M Krzanowski; A Szczeklik
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The European respiratory journal     Volume:  21     ISSN:  0903-1936     ISO Abbreviation:  Eur. Respir. J.     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2003-02-06     Completed Date:  2003-05-16     Revised Date:  2013-05-23    
Medline Journal Info:
Nlm Unique ID:  8803460     Medline TA:  Eur Respir J     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  25-30     Citation Subset:  IM    
Dept of Medicine, Jagiellonian University School of Medicine, Cracow, Poland.
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MeSH Terms
Case-Control Studies
Factor V / genetics
Genetic Predisposition to Disease
Methylenetetrahydrofolate Reductase (NADPH2)
Middle Aged
Oxidoreductases Acting on CH-NH Group Donors / genetics
Point Mutation
Polymorphism, Genetic*
Prothrombin / genetics
Pulmonary Embolism / genetics*
Risk Factors
Venous Thrombosis / genetics*
Reg. No./Substance:
0/factor V Leiden; 9001-24-5/Factor V; 9001-26-7/Prothrombin; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC Reductase (NADPH2)

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