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Polymorphisms in the prothrombin gene and their association with plasma prothrombin levels
H Ceelie1, R M Bertina, A van Hylckama Vlieg
1Haemostasis and Thrombosis Research Centre, Dept of Haematology, Leiden University Medical Centre, The Netherlands. hceelie@LUMC.nl
Thrombosis and Haemostasis
|July 4, 2001
Summary
Genetic variations in the prothrombin gene influence plasma prothrombin levels. The 19911-G allele is linked to higher levels, impacting thrombotic risk in specific genotypes.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- High plasma prothrombin levels are a known prothrombotic risk factor.
- The 20210-A allele of the prothrombin gene is associated with elevated prothrombin levels.
Purpose of the Study:
- To identify genetic factors contributing to high plasma prothrombin levels.
- To investigate sequence variations in the prothrombin gene.
Main Methods:
- Subjects with 20210-GG genotype and elevated prothrombin levels were selected from the Leiden Thrombophilia Study (LETS).
- Sequence variations in the prothrombin gene's promoter region were analyzed.
- Allelic frequencies of prothrombin gene polymorphisms were compared between healthy volunteers and LETS subjects.
Main Results:
- No mutations were found in the promoter region of seven individuals with isolated high prothrombin levels.
- The 19911-G allele was more frequent in LETS subjects (78%) compared to healthy volunteers (52%).
- Homozygous 19911-G carriers had 8 U/dl higher prothrombin levels than 19911-AA carriers, without affecting thrombotic risk in 20210-GG carriers.
- In heterozygous 20210-A carriers, the odds ratio for thrombotic risk increased from 1.6 with the 19911-A allele to 4.7 with the 19911-G allele.
Conclusions:
- The 19911-G allele of the prothrombin gene is associated with increased plasma prothrombin levels.
- This allele modifies the thrombotic risk associated with the 20210-A allele.