The Prothrombin Gene G20210A Variant in an Unselected Thromboembolic Population. A belgian prospective clinical study

The presence of the 20210A allele of the prothrombin gene has recently been shown to be a risk factor of venous thromboembolism, probably mediated through increased prothrombin levels. The aim of the study was to determine the frequency of the prothrombin 20210A allele in 193 consecutive unselected...

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Bibliographic Details
Published in:Acta clinica belgica (English ed. Online) 1998-10, Vol.53 (5), p.344-348
Main Authors: Hainaut, Ph, Gala, J.L., Lesage, V., Lavenne, E., Azerad, M.-A., Zech, F., Heusterspreute, F., Philippe, M., Moriau, M.
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Alleles
Belgium
Cohort Studies
Factor V - genetics
Female
Gene Frequency
Hematology
Heterozygote
Human health sciences
Humans
Hématologie
Male
Middle Aged
Mutation - genetics
Prospective Studies
Prothrombin - analysis
Prothrombin - genetics
Recurrence
Sciences de la santé humaine
Sequence Analysis, DNA
Thromboembolism - genetics
Venous Thrombosis - genetics
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Summary:The presence of the 20210A allele of the prothrombin gene has recently been shown to be a risk factor of venous thromboembolism, probably mediated through increased prothrombin levels. The aim of the study was to determine the frequency of the prothrombin 20210A allele in 193 consecutive unselected patients with venous thromboembolism and 100 healthy controls and to analyze the clinical profile associated with this new inherited thrombophilic factor. In agreement with previous reports, we found a frequency of 7.3% of heterozygous carriers of the 20210A allele among patients and 1% among controls. We confirm that plasma prothrombin levels are more elevated in the individuals bearing the prothrombin 20210A allele compared with those who do not. We did not find any relationship between the presence of the prothrombin 20210A allele and either a family history of thromboembolism, the rate of recurrences or the age at disease onset. However, the coinheritance in the same individual of both prothrombin 20210A allele and factor V Leiden was associated with a significantly lower age at disease onset suggesting a synergistic contribution of both abnormalities.
ISSN:1784-3286
2295-3337
2295-3337
DOI:10.1080/17843286.1998.11754187