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Published on: September 9, 2012
A prothrombin gene mutation is significantly associated with venous thrombosis
R K Kapur1, L A Mills, S G Spitzer
1Department of Medicine, State University of New York at Stony Brook, USA.
Arteriosclerosis, Thrombosis, and Vascular Biology
|December 31, 1997
Summary
A prothrombin gene mutation in the 3'-untranslated region (UTR) is more common in individuals with venous thrombosis. This finding suggests the mutation is a significant risk factor for venous thrombosis in the white population.
Area of Science:
- Genetics
- Hematology
- Epidemiology
Background:
- Venous thromboembolism is a significant health concern.
- Genetic factors are implicated in thrombosis risk.
- The prothrombin gene 3 -untranslated region (UTR) mutation has been previously identified.
Purpose of the Study:
- To investigate the prevalence of the prothrombin gene 3 -UTR mutation in subjects with a history of thrombosis.
- To determine if this mutation is associated with an increased risk of venous or arterial thrombosis.
- To compare mutation prevalence between thrombosis patients and control subjects.
Main Methods:
- Case-control study design.
- Recruitment of 100 subjects (50 with thrombosis history, 50 controls).
- DNA analysis using polymerase chain reaction and agarose gel electrophoresis; confirmed by direct DNA sequencing.
Main Results:
- A statistically significant increase in the 3 -UTR mutation prevalence was observed in subjects with a history of venous thrombosis (19%) compared to controls (2%).
- No significant increase in mutation prevalence was found in subjects with arterial thrombosis (0%).
- The G-->A mutation at nucleotide 20,210 in the 3 -UTR was confirmed.
Conclusions:
- The prothrombin gene 3 -UTR mutation is a significant risk factor for venous thrombosis.
- The findings are consistent with previous studies in Dutch populations.
- This mutation may be an important risk factor for venous thrombosis in the general white population.
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